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Protein Ontology report - presenilin-1 sequence variant (human)
PR:000036285 -
http://purl.obolibrary.org/obo/PR_000036285
Protein Forms
Annotations
Ontology Information
Show OBO stanza
/
GPI
PRO ID
PR:000036285
PRO name
presenilin-1 sequence variant (human)
Synonyms
PRO-Short-label
:
EXACT:
hPSEN1/var+
Definition
"A presenilin-1 (human) that has at least one amino acid residue that differs from the corresponding residue found in another presenilin-1 (human) when such a difference arises as the result of genetic differences, i.e., different alleles of presenilin-1 (human). Operationally, this means the sequence representation of the presenilin-1 (human) has at least one amino acid residue that differs from the corresponding residue found in the sequence represented by
UniProtKB:P49768-1
." [PRO:DAN]
Comment
Requested by=Alzforum.
PRO Category
organism-sequence
Parent
PR:P49768
presenilin-1 (human)
Taxon
NCBITaxon:9606
Homo sapiens
Terms by PRO Category
Organism-Independent
Organism-Specific
Category
Number of Terms
Category
Number of Terms
Sequence
0
Organism-Sequence
227
Modification
0
Organism-Modification
0
Term Hierarchy
Visualization
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Category
PRO ID
Name
Short Name
Definition
Ann.
Has Annotation?
Comp.
In Complex?
organism-sequence
PR:000036285
presenilin-1 sequence variant (human)
hPSEN1/var+
"A presenilin-1 (human) that has at least one amino acid residue that differs from the corresponding residue found in another presenilin-1 (human) when such a difference arises as the result of genetic differences, i.e., different alleles of presenilin-1 (human). Operationally, this means the sequence representation of the presenilin-1 (human) has at least one amino acid residue that differs from the corresponding residue found in the sequence represented by UniProtKB:P49768-1." [PRO:DAN]
organism-sequence
PR:000037555
presenilin-1 sequence variant R35Q (human)
hPSEN1/var:R35Q
"A presenilin-1 sequence variant (human) that has a Gln residue at the position equivalent to Arg-35 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Arg-35, CHEBI:30011." [Alzforum:KD, PMID:11524469, PRO:DAN]
organism-sequence
PR:000037556
presenilin-1 sequence variant D40del (human)
hPSEN1/var:D40del
"A presenilin-1 sequence variant (human) that has a single-residue deletion at the position equivalent to Asp-40 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, 1-39, 41-467." [Alzforum:KD, PMID:24463146, PRO:DAN]
organism-sequence
PR:000037557
presenilin-1 sequence variant A79V (human)
hPSEN1/var:A79V
"A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Ala-79 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-79, CHEBI:30015." [Alzforum:KD, PMID:9384602, PRO:DAN]
Yes
organism-sequence
PR:000037558
presenilin-1 sequence variant V82L (human)
hPSEN1/var:V82L
"A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Val-82 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Val-82, CHEBI:30006." [Alzforum:KD, PMID:8634712, PRO:DAN]
Yes
organism-sequence
PR:000037559
presenilin-1 sequence variant L85P (human)
hPSEN1/var:L85P
"A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Leu-85 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-85, CHEBI:50342." [Alzforum:KD, PMID:15534188, PRO:DAN]
Yes
organism-sequence
PR:000037560
presenilin-1 sequence variant V89L (human)
hPSEN1/var:V89L
"A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Val-89 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Val-89, CHEBI:30006." [Alzforum:KD, PMID:11796781, PRO:DAN]
Yes
organism-sequence
PR:000037561
presenilin-1 sequence variant C92S (human)
hPSEN1/var:C92S
"A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Cys-92 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Cys-92, CHEBI:29999." [Alzforum:KD, PMID:14623725, PRO:DAN]
Yes
organism-sequence
PR:000037562
presenilin-1 sequence variant V94M (human)
hPSEN1/var:V94M
"A presenilin-1 sequence variant (human) that has a Met residue at the position equivalent to Val-94 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Val-94, CHEBI:16044." [Alzforum:KD, PMID:11568920, PRO:DAN]
Yes
organism-sequence
PR:000037563
presenilin-1 sequence variant V96F (human)
hPSEN1/var:V96F
"A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Val-96 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Val-96, CHEBI:29997." [Alzforum:KD, PMID:8733303, PRO:DAN]
Yes
organism-sequence
PR:000037564
presenilin-1 sequence variant V97L (human)
hPSEN1/var:V97L
"A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Val-97 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Val-97, CHEBI:30006." [Alzforum:KD, PMID:15851849, PRO:DAN]
Yes
organism-sequence
PR:000037565
presenilin-1 sequence variant F105I (human)
hPSEN1/var:F105I
"A presenilin-1 sequence variant (human) that has an Ile residue at the position equivalent to Phe-105 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-105, CHEBI:30009." [Alzforum:KD, PMID:16033913, PRO:DAN]
Yes
organism-sequence
PR:000037566
presenilin-1 sequence variant F105V (human)
hPSEN1/var:F105V
"A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Phe-105 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-105, CHEBI:30015." [Alzforum:KD, PMID:20157243, PRO:DAN]
Yes
organism-sequence
PR:000037567
presenilin-1 sequence variant F105C (human)
hPSEN1/var:F105C
"A presenilin-1 sequence variant (human) that has a Cys residue at the position equivalent to Phe-105 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-105, CHEBI:29950." [Alzforum:KD, PMID:24650794, PMID:24737487, PRO:DAN]
Yes
organism-sequence
PR:000037568
presenilin-1 sequence variant F105L (human)
hPSEN1/var:F105L
"A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Phe-105 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-105, CHEBI:30006." [Alzforum:KD, PMID:10631141, PRO:DAN]
Yes
organism-sequence
PR:000037569
presenilin-1 sequence variant L113Q (human)
hPSEN1/var:L113Q
"A presenilin-1 sequence variant (human) that has a Gln residue at the position equivalent to Leu-113 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-113, CHEBI:30011." [Alzforum:KD, PMID:15776278, PRO:DAN]
Yes
organism-sequence
PR:000037570
presenilin-1 sequence variant L113P (human)
hPSEN1/var:L113P
"A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Leu-113 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-113, CHEBI:50342." [Alzforum:KD, PMID:11094121, PRO:DAN]
organism-sequence
PR:000037571
presenilin-1 sequence variant Y115H (human)
hPSEN1/var:Y115H
"A presenilin-1 sequence variant (human) that has a His residue at the position equivalent to Tyr-115 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Tyr-115, CHEBI:29979." [Alzforum:KD, PMID:8634712, PRO:DAN]
Yes
organism-sequence
PR:000037572
presenilin-1 sequence variant Y115C (human)
hPSEN1/var:Y115C
"A presenilin-1 sequence variant (human) that has a Cys residue at the position equivalent to Tyr-115 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Tyr-115, CHEBI:29950." [Alzforum:KD, PMID:9384602, PRO:DAN]
Yes
organism-sequence
PR:000037573
presenilin-1 sequence variant Y115D (human)
hPSEN1/var:Y115D
"A presenilin-1 sequence variant (human) that has an Asp residue at the position equivalent to Tyr-115 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Tyr-115, CHEBI:29958." [Alzforum:KD, PRO:DAN]
Yes
organism-sequence
PR:000037574
presenilin-1 sequence variant T116I (human)
hPSEN1/var:T116I
"A presenilin-1 sequence variant (human) that has an Ile residue at the position equivalent to Thr-116 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Thr-116, CHEBI:30009." [Alzforum:KD, PMID:15272895, PRO:DAN]
Yes
organism-sequence
PR:000037575
presenilin-1 sequence variant T116N (human)
hPSEN1/var:T116N
"A presenilin-1 sequence variant (human) that has an Asn residue at the position equivalent to Thr-116 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Thr-116, CHEBI:50347." [Alzforum:KD, PMID:10439444, PRO:DAN]
Yes
organism-sequence
PR:000037576
presenilin-1 sequence variant P117S (human)
hPSEN1/var:P117S
"A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Pro-117 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Pro-117, CHEBI:29999." [Alzforum:KD, PMID:15004326, PRO:DAN]
Yes
organism-sequence
PR:000037577
presenilin-1 sequence variant P117R (human)
hPSEN1/var:P117R
"A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Pro-117 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Pro-117, CHEBI:29952." [Alzforum:KD, PMID:14769392, PRO:DAN]
Yes
organism-sequence
PR:000037578
presenilin-1 sequence variant P117A (human)
hPSEN1/var:P117A
"A presenilin-1 sequence variant (human) that has an Ala residue at the position equivalent to Pro-117 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Pro-117, CHEBI:46217." [Alzforum:KD, PMID:18024701, PRO:DAN]
Yes
organism-sequence
PR:000037579
presenilin-1 sequence variant P117L (human)
hPSEN1/var:P117L
"A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Pro-117 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Pro-117, CHEBI:30006." [Alzforum:KD, PMID:9507958, PRO:DAN]
Yes
organism-sequence
PR:000037580
presenilin-1 sequence variant E120K (human)
hPSEN1/var:E120K
"A presenilin-1 sequence variant (human) that has a Lys residue at the position equivalent to Glu-120 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Glu-120, CHEBI:29967." [Alzforum:KD, PMID:8733749, PRO:DAN]
Yes
organism-sequence
PR:000037581
presenilin-1 sequence variant E120G (human)
hPSEN1/var:E120G
"A presenilin-1 sequence variant (human) that has a Gly residue at the position equivalent to Glu-120 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Glu-120, CHEBI:29947." [Alzforum:KD, PMID:20157243, PMID:20388456, PRO:DAN]
Yes
organism-sequence
PR:000037582
presenilin-1 sequence variant E120D (human)
hPSEN1/var:E120D
"A presenilin-1 sequence variant (human) that has an Asp residue at the position equivalent to Glu-120 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Glu-120, CHEBI:29958." [Alzforum:KD, PMID:8931704, PMID:9521423, PRO:DAN]
Yes
organism-sequence
PR:000037583
presenilin-1 sequence variant E123K (human)
hPSEN1/var:E123K
"A presenilin-1 sequence variant (human) that has a Lys residue at the position equivalent to Glu-123 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Glu-123, CHEBI:29967." [Alzforum:KD, PMID:9923762, PRO:DAN]
Yes
organism-sequence
PR:000037584
presenilin-1 sequence variant N135D (human)
hPSEN1/var:N135D
"A presenilin-1 sequence variant (human) that has an Asp residue at the position equivalent to Asn-135 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Asn-135, CHEBI:29958." [Alzforum:KD, PMID:9225696, PRO:DAN]
Yes
organism-sequence
PR:000037585
presenilin-1 sequence variant N135S (human)
hPSEN1/var:N135S
"A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Asn-135 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Asn-135, CHEBI:29999." [Alzforum:KD, PMID:15776278, PRO:DAN]
Yes
organism-sequence
PR:000037586
presenilin-1 sequence variant A136G (human)
hPSEN1/var:A136G
"A presenilin-1 sequence variant (human) that has a Gly residue at the position equivalent to Ala-136 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-136, CHEBI:29947." [Alzforum:KD, PMID:17456364, PRO:DAN]
Yes
organism-sequence
PR:000037587
presenilin-1 sequence variant M139T (human)
hPSEN1/var:M139T
"A presenilin-1 sequence variant (human) that has a Thr residue at the position equivalent to Met-139 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Met-139, CHEBI:30013." [Alzforum:KD, PMID:8634712, PRO:DAN]
Yes
organism-sequence
PR:000037588
presenilin-1 sequence variant M139V (human)
hPSEN1/var:M139V
"A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Met-139 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Met-139, CHEBI:30015." [Alzforum:KD, PMID:7550356, PRO:DAN]
Yes
organism-sequence
PR:000037589
presenilin-1 sequence variant M139K (human)
hPSEN1/var:M139K
"A presenilin-1 sequence variant (human) that has a Lys residue at the position equivalent to Met-139 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Met-139, CHEBI:29967." [Alzforum:KD, PMID:9719376, PRO:DAN]
Yes
organism-sequence
PR:000037590
presenilin-1 sequence variant M139I (human)
hPSEN1/var:M139I
"A presenilin-1 sequence variant (human) that has an Ile residue at the position equivalent to Met-139 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Met-139, CHEBI:30009." [Alzforum:KD, PMID:20213228, PMID:8538334, PRO:DAN]
Yes
organism-sequence
PR:000037591
presenilin-1 sequence variant I143N (human)
hPSEN1/var:I143N
"A presenilin-1 sequence variant (human) that has an Asn residue at the position equivalent to Ile-143 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-143, CHEBI:50347." [Alzforum:KD, PMID:16033913, PRO:DAN]
Yes
organism-sequence
PR:000037592
presenilin-1 sequence variant I143V (human)
hPSEN1/var:I143V
"A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Ile-143 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-143, CHEBI:30015." [Alzforum:KD, PMID:21422519, PRO:DAN]
Yes
organism-sequence
PR:000037593
presenilin-1 sequence variant I143F (human)
hPSEN1/var:I143F
"A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Ile-143 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-143, CHEBI:29997." [Alzforum:KD, PMID:10090481, PMID:8684135, PRO:DAN]
Yes
organism-sequence
PR:000037594
presenilin-1 sequence variant I143T (human)
hPSEN1/var:I143T
"A presenilin-1 sequence variant (human) that has a Thr residue at the position equivalent to Ile-143 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-143, CHEBI:30013." [Alzforum:KD, PMID:11524469, PMID:8634711, PRO:DAN]
Yes
organism-sequence
PR:000037595
presenilin-1 sequence variant I143M (human)
hPSEN1/var:I143M
"A presenilin-1 sequence variant (human) that has a Met residue at the position equivalent to Ile-143 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-143, CHEBI:16044." [Alzforum:KD, PRO:DAN]
Yes
organism-sequence
PR:000037596
presenilin-1 sequence variant M146L (human)
hPSEN1/var:M146L
"A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Met-146 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Met-146, CHEBI:30006." [Alzforum:KD, PMID:7596406, PMID:7623584, PMID:9712537, PRO:DAN]
Yes
organism-sequence
PR:000037597
presenilin-1 sequence variant M146I (human)
hPSEN1/var:M146I
"A presenilin-1 sequence variant (human) that has an Ile residue at the position equivalent to Met-146 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Met-146, CHEBI:30009." [Alzforum:KD, PMID:11524469, PMID:9007311, PMID:9544835, PRO:DAN]
Yes
organism-sequence
PR:000037598
presenilin-1 sequence variant M146V (human)
hPSEN1/var:M146V
"A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Met-146 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Met-146, CHEBI:30015." [Alzforum:KD, PRO:DAN]
Yes
organism-sequence
PR:000037599
presenilin-1 sequence variant T147P (human)
hPSEN1/var:T147P
"A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Thr-147 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Thr-147, CHEBI:50342." [Alzforum:KD, PMID:24718101, PRO:DAN]
Yes
organism-sequence
PR:000037600
presenilin-1 sequence variant T147I (human)
hPSEN1/var:T147I
"A presenilin-1 sequence variant (human) that has an Ile residue at the position equivalent to Thr-147 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Thr-147, CHEBI:30009." [Alzforum:KD, PMID:10441572, PRO:DAN]
Yes
organism-sequence
PR:000037601
presenilin-1 sequence variant L153V (human)
hPSEN1/var:L153V
"A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Leu-153 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-153, CHEBI:30015." [Alzforum:KD, PMID:10874324, PMID:11405810, PRO:DAN]
Yes
organism-sequence
PR:000037602
presenilin-1 sequence variant Y154N (human)
hPSEN1/var:Y154N
"A presenilin-1 sequence variant (human) that has an Asn residue at the position equivalent to Tyr-154 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Tyr-154, CHEBI:50347." [Alzforum:KD, PMID:15364419, PRO:DAN]
Yes
organism-sequence
PR:000037603
presenilin-1 sequence variant Y154C (human)
hPSEN1/var:Y154C
"A presenilin-1 sequence variant (human) that has a Cys residue at the position equivalent to Tyr-154 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Tyr-154, CHEBI:29950." [Alzforum:KD, PMID:12552037, PRO:DAN]
Yes
organism-sequence
PR:000037604
presenilin-1 sequence variant H163Y (human)
hPSEN1/var:H163Y
"A presenilin-1 sequence variant (human) that has a Tyr residue at the position equivalent to His-163 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, His-163, CHEBI:46858." [Alzforum:KD, PMID:7550356, PRO:DAN]
Yes
organism-sequence
PR:000037605
presenilin-1 sequence variant H163P (human)
hPSEN1/var:H163P
"A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to His-163 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, His-163, CHEBI:50342." [Alzforum:KD, PMID:23046926, PRO:DAN]
organism-sequence
PR:000037606
presenilin-1 sequence variant H163R (human)
hPSEN1/var:H163R
"A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to His-163 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, His-163, CHEBI:29952." [Alzforum:KD, PMID:7596406, PMID:7623585, PMID:8634712, PRO:DAN]
Yes
organism-sequence
PR:000037607
presenilin-1 sequence variant W165G (human)
hPSEN1/var:W165G
"A presenilin-1 sequence variant (human) that has a Gly residue at the position equivalent to Trp-165 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Trp-165, CHEBI:29947." [Alzforum:KD, PRO:DAN]
Yes
organism-sequence
PR:000037608
presenilin-1 sequence variant W165C (human)
hPSEN1/var:W165C
"A presenilin-1 sequence variant (human) that has a Cys residue at the position equivalent to Trp-165 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Trp-165, CHEBI:29950." [Alzforum:KD, PMID:10441572, PRO:DAN]
Yes
organism-sequence
PR:000037609
presenilin-1 sequence variant L166R (human)
hPSEN1/var:L166R
"A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Leu-166 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-166, CHEBI:29952." [Alzforum:KD, PMID:10768621, PRO:DAN]
Yes
organism-sequence
PR:000037610
presenilin-1 sequence variant L166P (human)
hPSEN1/var:L166P
"A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Leu-166 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-166, CHEBI:50342." [Alzforum:KD, PMID:12048239, PRO:DAN]
Yes
organism-sequence
PR:000037611
presenilin-1 sequence variant L166H (human)
hPSEN1/var:L166H
"A presenilin-1 sequence variant (human) that has a His residue at the position equivalent to Leu-166 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-166, CHEBI:29979." [Alzforum:KD, PMID:16388371, PRO:DAN]
Yes
organism-sequence
PR:000037612
presenilin-1 sequence variant L166del (human)
hPSEN1/var:L166del
"A presenilin-1 sequence variant (human) that has a single-residue deletion at the position equivalent to Leu-166 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, 1-165, 167-467." [Alzforum:KD, PMID:17594345, PRO:DAN]
Yes
organism-sequence
PR:000037613
presenilin-1 sequence variant I167del (human)
hPSEN1/var:I167del
"A presenilin-1 sequence variant (human) that has a single-residue deletion at the position equivalent to Ile-167 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, 1-166, 168-467." [Alzforum:KD, PMID:24650794, PRO:DAN]
Yes
organism-sequence
PR:000037614
presenilin-1 sequence variant I168del (human)
hPSEN1/var:I168del
"A presenilin-1 sequence variant (human) that has a single-residue deletion at the position equivalent to Ile-168 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, 1-167, 169-467." [Alzforum:KD, PMID:12552037, PRO:DAN]
Yes
organism-sequence
PR:000037615
presenilin-1 sequence variant S169L (human)
hPSEN1/var:S169L
"A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Ser-169 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ser-169, CHEBI:30006." [Alzforum:KD, PMID:9831473, PRO:DAN]
Yes
organism-sequence
PR:000037616
presenilin-1 sequence variant S169P (human)
hPSEN1/var:S169P
"A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Ser-169 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ser-169, CHEBI:50342." [Alzforum:KD, PMID:10025789, PRO:DAN]
Yes
organism-sequence
PR:000037617
presenilin-1 sequence variant S170F (human)
hPSEN1/var:S170F
"A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Ser-170 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ser-170, CHEBI:29997." [Alzforum:KD, PMID:16344340, PRO:DAN]
Yes
organism-sequence
PR:000037618
presenilin-1 sequence variant L171P (human)
hPSEN1/var:L171P
"A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Leu-171 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-171, CHEBI:50342." [Alzforum:KD, PMID:9833068, PRO:DAN]
Yes
organism-sequence
PR:000037619
presenilin-1 sequence variant L173W (human)
hPSEN1/var:L173W
"A presenilin-1 sequence variant (human) that has a Trp residue at the position equivalent to Leu-173 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-173, CHEBI:29954." [Alzforum:KD, PMID:10441572, PRO:DAN]
Yes
organism-sequence
PR:000037620
presenilin-1 sequence variant L173F (human)
hPSEN1/var:L173F
"A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Leu-173 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-173, CHEBI:29997." [Alzforum:KD, PMID:19280102, PMID:22906081, PRO:DAN]
Yes
organism-sequence
PR:000037621
presenilin-1 sequence variant L174R (human)
hPSEN1/var:L174R
"A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Leu-174 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-174, CHEBI:29952." [Alzforum:KD, PMID:15592140, PRO:DAN]
Yes
organism-sequence
PR:000037622
presenilin-1 sequence variant L174M (human)
hPSEN1/var:L174M
"A presenilin-1 sequence variant (human) that has a Met residue at the position equivalent to Leu-174 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-174, CHEBI:16044." [Alzforum:KD, PMID:12484344, PRO:DAN]
Yes
organism-sequence
PR:000037623
presenilin-1 sequence variant F175S (human)
hPSEN1/var:F175S
"A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Phe-175 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-175, CHEBI:29999." [Alzforum:KD, PMID:12037434, PRO:DAN]
organism-sequence
PR:000037624
presenilin-1 sequence variant F177S (human)
hPSEN1/var:F177S
"A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Phe-177 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-177, CHEBI:29999." [Alzforum:KD, PMID:11524469, PRO:DAN]
Yes
organism-sequence
PR:000037625
presenilin-1 sequence variant F177L (human)
hPSEN1/var:F177L
"A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Phe-177 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-177, CHEBI:30006." [Alzforum:KD, PMID:11524469, PRO:DAN]
Yes
organism-sequence
PR:000037626
presenilin-1 sequence variant S178P (human)
hPSEN1/var:S178P
"A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Ser-178 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ser-178, CHEBI:50342." [Alzforum:KD, PMID:11524469, PRO:DAN]
Yes
organism-sequence
PR:000037627
presenilin-1 sequence variant G183V (human)
hPSEN1/var:G183V
"A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Gly-183 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-183, CHEBI:30015." [Alzforum:KD, PMID:15122701, PRO:DAN]
Yes
organism-sequence
PR:000037628
presenilin-1 sequence variant E184D (human)
hPSEN1/var:E184D
"A presenilin-1 sequence variant (human) that has an Asp residue at the position equivalent to Glu-184 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Glu-184, CHEBI:29958." [Alzforum:KD, PMID:9292884, PRO:DAN]
Yes
organism-sequence
PR:000037629
presenilin-1 sequence variant V191A (human)
hPSEN1/var:V191A
"A presenilin-1 sequence variant (human) that has an Ala residue at the position equivalent to Val-191 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Val-191, CHEBI:46217." [Alzforum:KD, PMID:18667258, PRO:DAN]
organism-sequence
PR:000037630
presenilin-1 sequence variant G206A (human)
hPSEN1/var:G206A
"A presenilin-1 sequence variant (human) that has an Ala residue at the position equivalent to Gly-206 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-206, CHEBI:46217." [Alzforum:KD, PMID:11524469, PMID:11710891, PRO:DAN]
Yes
organism-sequence
PR:000037631
presenilin-1 sequence variant G206S (human)
hPSEN1/var:G206S
"A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Gly-206 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-206, CHEBI:29999." [Alzforum:KD, PMID:11524469, PMID:16033913, PRO:DAN]
Yes
organism-sequence
PR:000037632
presenilin-1 sequence variant G206V (human)
hPSEN1/var:G206V
"A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Gly-206 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-206, CHEBI:30015." [Alzforum:KD, PMID:12112163, PRO:DAN]
Yes
organism-sequence
PR:000037633
presenilin-1 sequence variant G206D (human)
hPSEN1/var:G206D
"A presenilin-1 sequence variant (human) that has an Asp residue at the position equivalent to Gly-206 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-206, CHEBI:29958." [Alzforum:KD, PMID:16033913, PRO:DAN]
Yes
organism-sequence
PR:000037634
presenilin-1 sequence variant G209E (human)
hPSEN1/var:G209E
"A presenilin-1 sequence variant (human) that has a Glu residue at the position equivalent to Gly-209 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-209, CHEBI:29972." [Alzforum:KD, PMID:11524469, PRO:DAN]
Yes
organism-sequence
PR:000037635
presenilin-1 sequence variant G209R (human)
hPSEN1/var:G209R
"A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Gly-209 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-209, CHEBI:29952." [Alzforum:KD, PMID:10447269, PRO:DAN]
Yes
organism-sequence
PR:000037636
presenilin-1 sequence variant G209V (human)
hPSEN1/var:G209V
"A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Gly-209 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-209, CHEBI:30015." [Alzforum:KD, PMID:9521423, PRO:DAN]
Yes
organism-sequence
PR:000037637
presenilin-1 sequence variant S212Y (human)
hPSEN1/var:S212Y
"A presenilin-1 sequence variant (human) that has a Tyr residue at the position equivalent to Ser-212 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ser-212, CHEBI:46858." [Alzforum:KD, PMID:21094210, PRO:DAN]
Yes
organism-sequence
PR:000037638
presenilin-1 sequence variant I213T (human)
hPSEN1/var:I213T
"A presenilin-1 sequence variant (human) that has a Thr residue at the position equivalent to Ile-213 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-213, CHEBI:30013." [Alzforum:KD, PMID:8733303, PRO:DAN]
Yes
organism-sequence
PR:000037639
presenilin-1 sequence variant I213F (human)
hPSEN1/var:I213F
"A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Ile-213 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-213, CHEBI:29997." [Alzforum:KD, PMID:14769392, PRO:DAN]
Yes
organism-sequence
PR:000037640
presenilin-1 sequence variant H214Y (human)
hPSEN1/var:H214Y
"A presenilin-1 sequence variant (human) that has a Tyr residue at the position equivalent to His-214 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, His-214, CHEBI:46858." [Alzforum:KD, PMID:16033913, PRO:DAN]
Yes
organism-sequence
PR:000037641
presenilin-1 sequence variant H214D (human)
hPSEN1/var:H214D
"A presenilin-1 sequence variant (human) that has an Asp residue at the position equivalent to His-214 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, His-214, CHEBI:29958." [Alzforum:KD, PMID:18667258, PRO:DAN]
Yes
organism-sequence
PR:000037642
presenilin-1 sequence variant G217D (human)
hPSEN1/var:G217D
"A presenilin-1 sequence variant (human) that has an Asp residue at the position equivalent to Gly-217 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-217, CHEBI:29958." [Alzforum:KD, PMID:12111359, PRO:DAN]
Yes
organism-sequence
PR:000037643
presenilin-1 sequence variant G217R (human)
hPSEN1/var:G217R
"A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Gly-217 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-217, CHEBI:29952." [Alzforum:KD, PMID:19667325, PRO:DAN]
Yes
organism-sequence
PR:000037644
presenilin-1 sequence variant L219F (human)
hPSEN1/var:L219F
"A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Leu-219 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-219, CHEBI:29997." [Alzforum:KD, PRO:DAN]
Yes
organism-sequence
PR:000037645
presenilin-1 sequence variant L219P (human)
hPSEN1/var:L219P
"A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Leu-219 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-219, CHEBI:50342." [Alzforum:KD, PMID:10208579, PRO:DAN]
Yes
organism-sequence
PR:000037646
presenilin-1 sequence variant Q222R (human)
hPSEN1/var:Q222R
"A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Gln-222 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gln-222, CHEBI:29952." [Alzforum:KD, PMID:11524469, PRO:DAN]
Yes
organism-sequence
PR:000037647
presenilin-1 sequence variant Q222H (human)
hPSEN1/var:Q222H
"A presenilin-1 sequence variant (human) that has a His residue at the position equivalent to Gln-222 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gln-222, CHEBI:29979." [Alzforum:KD, PMID:12885573, PRO:DAN]
Yes
organism-sequence
PR:000037648
presenilin-1 sequence variant Q223R (human)
hPSEN1/var:Q223R
"A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Gln-223 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gln-223, CHEBI:29952." [Alzforum:KD, PMID:19912322, PRO:DAN]
Yes
organism-sequence
PR:000037649
presenilin-1 sequence variant L226R (human)
hPSEN1/var:L226R
"A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Leu-226 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-226, CHEBI:29952." [Alzforum:KD, PMID:15196662, PRO:DAN]
Yes
organism-sequence
PR:000037650
presenilin-1 sequence variant I229F (human)
hPSEN1/var:I229F
"A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Ile-229 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-229, CHEBI:29997." [Alzforum:KD, PMID:12552037, PRO:DAN]
Yes
organism-sequence
PR:000037651
presenilin-1 sequence variant A231V (human)
hPSEN1/var:A231V
"A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Ala-231 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-231, CHEBI:30015." [Alzforum:KD, PMID:9384602, PRO:DAN]
Yes
organism-sequence
PR:000037652
presenilin-1 sequence variant A231T (human)
hPSEN1/var:A231T
"A presenilin-1 sequence variant (human) that has a Thr residue at the position equivalent to Ala-231 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-231, CHEBI:30013." [Alzforum:KD, PMID:8634712, PRO:DAN]
Yes
organism-sequence
PR:000037653
presenilin-1 sequence variant M233L (human)
hPSEN1/var:M233L
"A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Met-233 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Met-233, CHEBI:30006." [Alzforum:KD, PMID:10533070, PMID:16948293, PRO:DAN]
Yes
organism-sequence
PR:000037654
presenilin-1 sequence variant M233T (human)
hPSEN1/var:M233T
"A presenilin-1 sequence variant (human) that has a Thr residue at the position equivalent to Met-233 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Met-233, CHEBI:30013." [Alzforum:KD, PMID:9172170, PRO:DAN]
Yes
organism-sequence
PR:000037655
presenilin-1 sequence variant M233I (human)
hPSEN1/var:M233I
"A presenilin-1 sequence variant (human) that has an Ile residue at the position equivalent to Met-233 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Met-233, CHEBI:30009." [Alzforum:KD, PMID:14581682, PMID:22475797, PRO:DAN]
Yes
organism-sequence
PR:000037656
presenilin-1 sequence variant M233V (human)
hPSEN1/var:M233V
"A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Met-233 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Met-233, CHEBI:30015." [Alzforum:KD, PMID:11684347, PRO:DAN]
Yes
organism-sequence
PR:000037657
presenilin-1 sequence variant L235P (human)
hPSEN1/var:L235P
"A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Leu-235 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-235, CHEBI:50342." [Alzforum:KD, PMID:8904759, PRO:DAN]
Yes
organism-sequence
PR:000037658
presenilin-1 sequence variant L235V (human)
hPSEN1/var:L235V
"A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Leu-235 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-235, CHEBI:30015." [Alzforum:KD, PMID:12552037, PRO:DAN]
Yes
organism-sequence
PR:000037659
presenilin-1 sequence variant F237L (human)
hPSEN1/var:F237L
"A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Phe-237 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-237, CHEBI:30006." [Alzforum:KD, PMID:12552037, PRO:DAN]
Yes
organism-sequence
PR:000037660
presenilin-1 sequence variant F237I (human)
hPSEN1/var:F237I
"A presenilin-1 sequence variant (human) that has an Ile residue at the position equivalent to Phe-237 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-237, CHEBI:30009." [Alzforum:KD, PMID:11561050, PRO:DAN]
Yes
organism-sequence
PR:000037661
presenilin-1 sequence variant I238M (human)
hPSEN1/var:I238M
"A presenilin-1 sequence variant (human) that has a Met residue at the position equivalent to Ile-238 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-238, CHEBI:16044." [Alzforum:KD, PMID:24413619, PRO:DAN]
Yes
organism-sequence
PR:000037662
presenilin-1 sequence variant K239N (human)
hPSEN1/var:K239N
"A presenilin-1 sequence variant (human) that has an Asn residue at the position equivalent to Lys-239 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Lys-239, CHEBI:50347." [Alzforum:KD, PMID:20158511, PRO:DAN]
Yes
organism-sequence
PR:000037663
presenilin-1 sequence variant T245P (human)
hPSEN1/var:T245P
"A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Thr-245 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Thr-245, CHEBI:50342." [Alzforum:KD, PMID:16469444, PRO:DAN]
Yes
organism-sequence
PR:000037664
presenilin-1 sequence variant A246E (human)
hPSEN1/var:A246E
"A presenilin-1 sequence variant (human) that has a Glu residue at the position equivalent to Ala-246 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-246, CHEBI:29972." [Alzforum:KD, PMID:7596406, PRO:DAN]
Yes
organism-sequence
PR:000037665
presenilin-1 sequence variant L248R (human)
hPSEN1/var:L248R
"A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Leu-248 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-248, CHEBI:29952." [Alzforum:KD, PMID:18667258, PRO:DAN]
Yes
organism-sequence
PR:000037666
presenilin-1 sequence variant L248P (human)
hPSEN1/var:L248P
"A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Leu-248 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-248, CHEBI:50342." [Alzforum:KD, PMID:24650794, PRO:DAN]
Yes
organism-sequence
PR:000037667
presenilin-1 sequence variant L250S (human)
hPSEN1/var:L250S
"A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Leu-250 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-250, CHEBI:29999." [Alzforum:KD, PMID:8733749, PMID:9436726, PRO:DAN]
Yes
organism-sequence
PR:000037668
presenilin-1 sequence variant L250V (human)
hPSEN1/var:L250V
"A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Leu-250 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-250, CHEBI:30015." [Alzforum:KD, PMID:12686406, PRO:DAN]
Yes
organism-sequence
PR:000037669
presenilin-1 sequence variant Y256S (human)
hPSEN1/var:Y256S
"A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Tyr-256 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Tyr-256, CHEBI:29999." [Alzforum:KD, PMID:12885573, PRO:DAN]
Yes
organism-sequence
PR:000037670
presenilin-1 sequence variant A260V (human)
hPSEN1/var:A260V
"A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Ala-260 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-260, CHEBI:30015." [Alzforum:KD, PMID:7651536, PMID:9007097, PRO:DAN]
Yes
organism-sequence
PR:000037671
presenilin-1 sequence variant V261F (human)
hPSEN1/var:V261F
"A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Val-261 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Val-261, CHEBI:29997." [Alzforum:KD, PMID:11524469, PRO:DAN]
Yes
organism-sequence
PR:000037672
presenilin-1 sequence variant V261L (human)
hPSEN1/var:V261L
"A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Val-261 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Val-261, CHEBI:30006." [Alzforum:KD, PMID:18637955, PRO:DAN]
Yes
organism-sequence
PR:000037673
presenilin-1 sequence variant L262F (human)
hPSEN1/var:L262F
"A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Leu-262 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-262, CHEBI:29997." [Alzforum:KD, PMID:9347932, PRO:DAN]
Yes
organism-sequence
PR:000037674
presenilin-1 sequence variant C263R (human)
hPSEN1/var:C263R
"A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Cys-263 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Cys-263, CHEBI:29952." [Alzforum:KD, PMID:7585193, PRO:DAN]
Yes
organism-sequence
PR:000037675
presenilin-1 sequence variant C263F (human)
hPSEN1/var:C263F
"A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Cys-263 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Cys-263, CHEBI:29997." [Alzforum:KD, PMID:12552037, PRO:DAN]
Yes
organism-sequence
PR:000037676
presenilin-1 sequence variant P264L (human)
hPSEN1/var:P264L
"A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Pro-264 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Pro-264, CHEBI:30006." [Alzforum:KD, PMID:7585193, PMID:8634712, PRO:DAN]
Yes
organism-sequence
PR:000037677
presenilin-1 sequence variant G266S (human)
hPSEN1/var:G266S
"A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Gly-266 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-266, CHEBI:29999." [Alzforum:KD, PMID:11920851, PRO:DAN]
Yes
organism-sequence
PR:000037678
presenilin-1 sequence variant P267S (human)
hPSEN1/var:P267S
"A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Pro-267 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Pro-267, CHEBI:29999." [Alzforum:KD, PMID:7550356, PMID:8733749, PRO:DAN]
Yes
organism-sequence
PR:000037680
presenilin-1 sequence variant R269H (human)
hPSEN1/var:R269H
"A presenilin-1 sequence variant (human) that has a His residue at the position equivalent to Arg-269 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Arg-269, CHEBI:29979." [Alzforum:KD, PMID:9189043, PRO:DAN]
Yes
organism-sequence
PR:000037681
presenilin-1 sequence variant R269G (human)
hPSEN1/var:R269G
"A presenilin-1 sequence variant (human) that has a Gly residue at the position equivalent to Arg-269 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Arg-269, CHEBI:29947." [Alzforum:KD, PMID:8910898, PRO:DAN]
Yes
organism-sequence
PR:000037682
presenilin-1 sequence variant L271V (human)
hPSEN1/var:L271V
"A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Leu-271 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-271, CHEBI:30015." [Alzforum:KD, PMID:12493737, PRO:DAN]
Yes
organism-sequence
PR:000037683
presenilin-1 sequence variant V272A (human)
hPSEN1/var:V272A
"A presenilin-1 sequence variant (human) that has an Ala residue at the position equivalent to Val-272 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Val-272, CHEBI:46217." [Alzforum:KD, PMID:15469450, PRO:DAN]
Yes
organism-sequence
PR:000037684
presenilin-1 sequence variant E273A (human)
hPSEN1/var:E273A
"A presenilin-1 sequence variant (human) that has an Ala residue at the position equivalent to Glu-273 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Glu-273, CHEBI:46217." [Alzforum:KD, PMID:9804121, PRO:DAN]
Yes
organism-sequence
PR:000037685
presenilin-1 sequence variant T274R (human)
hPSEN1/var:T274R
"A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Thr-274 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Thr-274, CHEBI:29952." [Alzforum:KD, PMID:11524469, PRO:DAN]
Yes
organism-sequence
PR:000037686
presenilin-1 sequence variant A275V (human)
hPSEN1/var:A275V
"A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Ala-275 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-275, CHEBI:30015." [Alzforum:KD, PMID:24582897, PRO:DAN]
Yes
organism-sequence
PR:000037687
presenilin-1 sequence variant R278I (human)
hPSEN1/var:R278I
"A presenilin-1 sequence variant (human) that has an Ile residue at the position equivalent to Arg-278 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Arg-278, CHEBI:30009." [Alzforum:KD, PMID:15534260, PRO:DAN]
Yes
organism-sequence
PR:000037688
presenilin-1 sequence variant R278K (human)
hPSEN1/var:R278K
"A presenilin-1 sequence variant (human) that has a Lys residue at the position equivalent to Arg-278 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Arg-278, CHEBI:29967." [Alzforum:KD, PMID:12525746, PRO:DAN]
Yes
organism-sequence
PR:000037689
presenilin-1 sequence variant R278T (human)
hPSEN1/var:R278T
"A presenilin-1 sequence variant (human) that has a Thr residue at the position equivalent to Arg-278 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Arg-278, CHEBI:30013." [Alzforum:KD, PMID:9172170, PRO:DAN]
Yes
organism-sequence
PR:000037690
presenilin-1 sequence variant R278S (human)
hPSEN1/var:R278S
"A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Arg-278 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Arg-278, CHEBI:29999." [Alzforum:KD, PMID:17507029, PRO:DAN]
Yes
organism-sequence
PR:000037691
presenilin-1 sequence variant E280A (human)
hPSEN1/var:E280A
"A presenilin-1 sequence variant (human) that has an Ala residue at the position equivalent to Glu-280 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Glu-280, CHEBI:46217." [Alzforum:KD, PMID:7550356, PMID:9052708, PRO:DAN]
Yes
organism-sequence
PR:000037692
presenilin-1 sequence variant E280G (human)
hPSEN1/var:E280G
"A presenilin-1 sequence variant (human) that has a Gly residue at the position equivalent to Glu-280 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Glu-280, CHEBI:29947." [Alzforum:KD, PMID:12370477, PMID:7550356, PRO:DAN]
Yes
organism-sequence
PR:000037693
presenilin-1 sequence variant L282V (human)
hPSEN1/var:L282V
"A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Leu-282 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-282, CHEBI:30015." [Alzforum:KD, PMID:11701593, PRO:DAN]
Yes
organism-sequence
PR:000037694
presenilin-1 sequence variant L282F (human)
hPSEN1/var:L282F
"A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Leu-282 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-282, CHEBI:29997." [Alzforum:KD, PMID:19430857, PRO:DAN]
Yes
organism-sequence
PR:000037695
presenilin-1 sequence variant L282R (human)
hPSEN1/var:L282R
"A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Leu-282 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-282, CHEBI:29952." [Alzforum:KD, PMID:9502232, PRO:DAN]
Yes
organism-sequence
PR:000037696
presenilin-1 sequence variant P284L (human)
hPSEN1/var:P284L
"A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Pro-284 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Pro-284, CHEBI:30006." [Alzforum:KD, PMID:12391599, PRO:DAN]
Yes
organism-sequence
PR:000037697
presenilin-1 sequence variant P284S (human)
hPSEN1/var:P284S
"A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Pro-284 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Pro-284, CHEBI:29999." [Alzforum:KD, PMID:16401857, PRO:DAN]
Yes
organism-sequence
PR:000037698
presenilin-1 sequence variant A285V (human)
hPSEN1/var:A285V
"A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Ala-285 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-285, CHEBI:30015." [Alzforum:KD, PMID:7651536, PMID:9007097, PRO:DAN]
Yes
organism-sequence
PR:000037699
presenilin-1 sequence variant L286V (human)
hPSEN1/var:L286V
"A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Leu-286 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-286, CHEBI:30015." [Alzforum:KD, PMID:7596406, PRO:DAN]
Yes
organism-sequence
PR:000037700
presenilin-1 sequence variant L286P (human)
hPSEN1/var:L286P
"A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Leu-286 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-286, CHEBI:50342." [Alzforum:KD, PMID:18028191, PRO:DAN]
Yes
organism-sequence
PR:000037701
presenilin-1 sequence variant T291P (human)
hPSEN1/var:T291P
"A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Thr-291 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Thr-291, CHEBI:50342." [Alzforum:KD, PMID:16941492, PRO:DAN]
Yes
organism-sequence
PR:000037702
presenilin-1 sequence variant E318G (human)
hPSEN1/var:E318G
"A presenilin-1 sequence variant (human) that has a Gly residue at the position equivalent to Glu-318 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Glu-318, CHEBI:29947." [Alzforum:KD, PMID:8773614, PMID:9384602, PMID:9851450, PRO:DAN]
organism-sequence
PR:000037703
presenilin-1 sequence variant D333G (human)
hPSEN1/var:D333G
"A presenilin-1 sequence variant (human) that has a Gly residue at the position equivalent to Asp-333 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Asp-333, CHEBI:29947." [Alzforum:KD, PMID:17186461, PRO:DAN]
organism-sequence
PR:000037704
presenilin-1 sequence variant T354I (human)
hPSEN1/var:T354I
"A presenilin-1 sequence variant (human) that has an Ile residue at the position equivalent to Thr-354 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Thr-354, CHEBI:30009." [Alzforum:KD, PMID:11524469, PMID:16801675, PRO:DAN]
organism-sequence
PR:000037705
presenilin-1 sequence variant R358Q (human)
hPSEN1/var:R358Q
"A presenilin-1 sequence variant (human) that has a Gln residue at the position equivalent to Arg-358 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Arg-358, CHEBI:30011." [Alzforum:KD, PMID:11524469, PRO:DAN]
Yes
organism-sequence
PR:000037706
presenilin-1 sequence variant S365A (human)
hPSEN1/var:S365A
"A presenilin-1 sequence variant (human) that has an Ala residue at the position equivalent to Ser-365 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ser-365, CHEBI:46217." [Alzforum:KD, PMID:18667258, PRO:DAN]
Yes
organism-sequence
PR:000037707
presenilin-1 sequence variant S365Y (human)
hPSEN1/var:S365Y
"A presenilin-1 sequence variant (human) that has a Tyr residue at the position equivalent to Ser-365 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ser-365, CHEBI:46858." [Alzforum:KD, PMID:11524469, PRO:DAN]
organism-sequence
PR:000037708
presenilin-1 sequence variant R377M (human)
hPSEN1/var:R377M
"A presenilin-1 sequence variant (human) that has a Met residue at the position equivalent to Arg-377 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Arg-377, CHEBI:16044." [Alzforum:KD, PMID:12552037, PRO:DAN]
Yes
organism-sequence
PR:000037709
presenilin-1 sequence variant G378E (human)
hPSEN1/var:G378E
"A presenilin-1 sequence variant (human) that has a Glu residue at the position equivalent to Gly-378 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-378, CHEBI:29972." [Alzforum:KD, PMID:10200054, PRO:DAN]
Yes
organism-sequence
PR:000037710
presenilin-1 sequence variant G378V (human)
hPSEN1/var:G378V
"A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Gly-378 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-378, CHEBI:30015." [Alzforum:KD, PMID:12552037, PRO:DAN]
Yes
organism-sequence
PR:000037711
presenilin-1 sequence variant L381V (human)
hPSEN1/var:L381V
"A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Leu-381 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-381, CHEBI:30015." [Alzforum:KD, PMID:19797784, PRO:DAN]
Yes
organism-sequence
PR:000037712
presenilin-1 sequence variant L381F (human)
hPSEN1/var:L381F
"A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Leu-381 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-381, CHEBI:29997." [Alzforum:KD, PMID:24121961, PRO:DAN]
Yes
organism-sequence
PR:000037713
presenilin-1 sequence variant G384A (human)
hPSEN1/var:G384A
"A presenilin-1 sequence variant (human) that has an Ala residue at the position equivalent to Gly-384 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-384, CHEBI:46217." [Alzforum:KD, PMID:8634711, PMID:8945747, PRO:DAN]
Yes
organism-sequence
PR:000037714
presenilin-1 sequence variant F386S (human)
hPSEN1/var:F386S
"A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Phe-386 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-386, CHEBI:29999." [Alzforum:KD, PMID:16033913, PRO:DAN]
Yes
organism-sequence
PR:000037715
presenilin-1 sequence variant S390I (human)
hPSEN1/var:S390I
"A presenilin-1 sequence variant (human) that has an Ile residue at the position equivalent to Ser-390 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ser-390, CHEBI:30009." [Alzforum:KD, PMID:10441572, PRO:DAN]
Yes
organism-sequence
PR:000037716
presenilin-1 sequence variant V391F (human)
hPSEN1/var:V391F
"A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Val-391 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Val-391, CHEBI:29997." [Alzforum:KD, PMID:16033913, PRO:DAN]
Yes
organism-sequence
PR:000037717
presenilin-1 sequence variant L392V (human)
hPSEN1/var:L392V
"A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Leu-392 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-392, CHEBI:30015." [Alzforum:KD, PMID:10441572, PMID:7651536, PMID:7824141, PMID:8634712, PRO:DAN]
Yes
organism-sequence
PR:000037718
presenilin-1 sequence variant L392P (human)
hPSEN1/var:L392P
"A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Leu-392 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-392, CHEBI:50342." [Alzforum:KD, PMID:11094128, PRO:DAN]
Yes
organism-sequence
PR:000037719
presenilin-1 sequence variant G394V (human)
hPSEN1/var:G394V
"A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Gly-394 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-394, CHEBI:30015." [Alzforum:KD, PMID:11524469, PRO:DAN]
Yes
organism-sequence
PR:000037720
presenilin-1 sequence variant N405S (human)
hPSEN1/var:N405S
"A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Asn-405 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Asn-405, CHEBI:29999." [Alzforum:KD, PMID:10644793, PRO:DAN]
Yes
organism-sequence
PR:000037721
presenilin-1 sequence variant A409T (human)
hPSEN1/var:A409T
"A presenilin-1 sequence variant (human) that has a Thr residue at the position equivalent to Ala-409 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-409, CHEBI:30013." [Alzforum:KD, PMID:10533070, PRO:DAN]
Yes
organism-sequence
PR:000037722
presenilin-1 sequence variant C410Y (human)
hPSEN1/var:C410Y
"A presenilin-1 sequence variant (human) that has a Tyr residue at the position equivalent to Cys-410 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Cys-410, CHEBI:46858." [Alzforum:KD, PMID:7596406, PMID:8634712, PRO:DAN]
Yes
organism-sequence
PR:000037723
presenilin-1 sequence variant V412I (human)
hPSEN1/var:V412I
"A presenilin-1 sequence variant (human) that has an Ile residue at the position equivalent to Val-412 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Val-412, CHEBI:30009." [Alzforum:KD, PMID:18314228, PRO:DAN]
organism-sequence
PR:000037724
presenilin-1 sequence variant L418F (human)
hPSEN1/var:L418F
"A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Leu-418 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-418, CHEBI:29997." [Alzforum:KD, PMID:11524469, PRO:DAN]
Yes
organism-sequence
PR:000037725
presenilin-1 sequence variant L420R (human)
hPSEN1/var:L420R
"A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Leu-420 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-420, CHEBI:29952." [Alzforum:KD, PMID:17645236, PRO:DAN]
Yes
organism-sequence
PR:000037726
presenilin-1 sequence variant L424H (human)
hPSEN1/var:L424H
"A presenilin-1 sequence variant (human) that has a His residue at the position equivalent to Leu-424 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-424, CHEBI:29979." [Alzforum:KD, PMID:16033913, PMID:16546171, PRO:DAN]
Yes
organism-sequence
PR:000037727
presenilin-1 sequence variant L424R (human)
hPSEN1/var:L424R
"A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Leu-424 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-424, CHEBI:29952." [Alzforum:KD, PMID:10337065, PRO:DAN]
Yes
organism-sequence
PR:000037728
presenilin-1 sequence variant L424F (human)
hPSEN1/var:L424F
"A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Leu-424 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-424, CHEBI:29997." [Alzforum:KD, PRO:DAN]
Yes
organism-sequence
PR:000037729
presenilin-1 sequence variant L424V (human)
hPSEN1/var:L424V
"A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Leu-424 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-424, CHEBI:30015." [Alzforum:KD, PMID:19001354, PRO:DAN]
Yes
organism-sequence
PR:000037730
presenilin-1 sequence variant A426P (human)
hPSEN1/var:A426P
"A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Ala-426 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-426, CHEBI:50342." [Alzforum:KD, PMID:9521423, PRO:DAN]
Yes
organism-sequence
PR:000037731
presenilin-1 sequence variant A431V (human)
hPSEN1/var:A431V
"A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Ala-431 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-431, CHEBI:30015." [Alzforum:KD, PMID:12399144, PRO:DAN]
Yes
organism-sequence
PR:000037732
presenilin-1 sequence variant A431E (human)
hPSEN1/var:A431E
"A presenilin-1 sequence variant (human) that has a Glu residue at the position equivalent to Ala-431 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-431, CHEBI:29972." [Alzforum:KD, PMID:11524469, PRO:DAN]
Yes
organism-sequence
PR:000037733
presenilin-1 sequence variant A434C (human)
hPSEN1/var:A434C
"A presenilin-1 sequence variant (human) that has a Cys residue at the position equivalent to Ala-434 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-434, CHEBI:29950." [Alzforum:KD, PMID:11030797, PRO:DAN]
Yes
organism-sequence
PR:000037734
presenilin-1 sequence variant A434T (human)
hPSEN1/var:A434T
"A presenilin-1 sequence variant (human) that has a Thr residue at the position equivalent to Ala-434 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-434, CHEBI:30013." [Alzforum:KD, PMID:24650794, PRO:DAN]
Yes
organism-sequence
PR:000037735
presenilin-1 sequence variant L435F (human)
hPSEN1/var:L435F
"A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Leu-435 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-435, CHEBI:29997." [Alzforum:KD, PMID:11524469, PRO:DAN]
Yes
organism-sequence
PR:000037736
presenilin-1 sequence variant P436S (human)
hPSEN1/var:P436S
"A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Pro-436 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Pro-436, CHEBI:29999." [Alzforum:KD, PMID:10090481, PRO:DAN]
Yes
organism-sequence
PR:000037737
presenilin-1 sequence variant P436Q (human)
hPSEN1/var:P436Q
"A presenilin-1 sequence variant (human) that has a Gln residue at the position equivalent to Pro-436 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Pro-436, CHEBI:30011." [Alzforum:KD, PMID:9831473, PRO:DAN]
Yes
organism-sequence
PR:000037738
presenilin-1 sequence variant I439S (human)
hPSEN1/var:I439S
"A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Ile-439 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-439, CHEBI:29999." [Alzforum:KD, PMID:20157243, PRO:DAN]
Yes
organism-sequence
PR:000037739
presenilin-1 sequence variant I439V (human)
hPSEN1/var:I439V
"A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Ile-439 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-439, CHEBI:30015." [Alzforum:KD, PMID:11524469, PRO:DAN]
organism-sequence
PR:000037740
presenilin-1 sequence variant T440del (human)
hPSEN1/var:T440del
"A presenilin-1 sequence variant (human) that has a single-residue deletion at the position equivalent to Thr-440 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, 1-439, 441-467." [Alzforum:KD, PMID:15732120, PRO:DAN]
Yes
organism-sequence
PR:000044551
presenilin-1 sequence variant F386I (human)
hPSEN1/var:F386I
"A presenilin-1 sequence variant (human) that has an Ile residue at the position equivalent to Phe-386 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-386, CHEBI:30009." [Alzforum:KD, PRO:DAN]
Yes
organism-sequence
PR:000044552
presenilin-1 sequence variant F388L (human)
hPSEN1/var:F388L
"A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Phe-388 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-388, CHEBI:30006." [Alzforum:KD, PRO:DAN]
Yes
organism-sequence
PR:000044553
presenilin-1 sequence variant G209A (human)
hPSEN1/var:G209A
"A presenilin-1 sequence variant (human) that has an Ala residue at the position equivalent to Gly-209 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gly-209, CHEBI:46217." [Alzforum:KD, PRO:DAN]
Yes
organism-sequence
PR:000044554
presenilin-1 sequence variant H214N (human)
hPSEN1/var:H214N
"A presenilin-1 sequence variant (human) that has an Asn residue at the position equivalent to His-214 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, His-214, CHEBI:50347." [Alzforum:KD, PRO:DAN]
Yes
organism-sequence
PR:000044555
presenilin-1 sequence variant I408T (human)
hPSEN1/var:I408T
"A presenilin-1 sequence variant (human) that has a Thr residue at the position equivalent to Ile-408 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-408, CHEBI:30013." [Alzforum:KD, PRO:DAN]
Yes
organism-sequence
PR:000044556
presenilin-1 sequence variant N135Y (human)
hPSEN1/var:N135Y
"A presenilin-1 sequence variant (human) that has a Tyr residue at the position equivalent to Asn-135 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Asn-135, CHEBI:46858." [Alzforum:KD, PRO:DAN]
Yes
organism-sequence
PR:000044557
presenilin-1 sequence variant P267A (human)
hPSEN1/var:P267A
"A presenilin-1 sequence variant (human) that has an Ala residue at the position equivalent to Pro-267 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Pro-267, CHEBI:46217." [Alzforum:KD, PRO:DAN]
Yes
organism-sequence
PR:000044558
presenilin-1 sequence variant R220P (human)
hPSEN1/var:R220P
"A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Arg-220 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Arg-220, CHEBI:50342." [Alzforum:KD, PRO:DAN]
Yes
organism-sequence
PR:000044559
presenilin-1 sequence variant S169del (human)
hPSEN1/var:S169del
"A presenilin-1 sequence variant (human) that has a single-residue deletion at the position equivalent to Ser-169 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, 1-168, 170-467." [Alzforum:KD, PRO:DAN]
Yes
organism-sequence
PR:000044632
presenilin-1 sequence variant F205L (human)
hPSEN1/var:F205L
"A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Phe-205 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-205, CHEBI:30006." [PRO:DAN, UniProtKB_VAR:VAR_011876]
organism-sequence
PR:000044635
presenilin-1 sequence variant I213L (human)
hPSEN1/var:I213L
"A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Ile-213 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-213, CHEBI:30006." [PRO:DAN, UniProtKB_VAR:VAR_075268]
organism-sequence
PR:000045447
presenilin-1 sequence variant E69D (human)
hPSEN1/var:E69D
"A presenilin-1 sequence variant (human) that has an Asp residue at the position equivalent to Glu-69 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Glu-69, CHEBI:29958." [Alzforum:KD, PMID:26242991, PRO:DAN]
organism-sequence
PR:000045448
presenilin-1 sequence variant I83T (human)
hPSEN1/var:I83T
"A presenilin-1 sequence variant (human) that has a Thr residue at the position equivalent to Ile-83 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-83, CHEBI:30013." [Alzforum:KD, PMID:26145164, PRO:DAN]
Yes
organism-sequence
PR:000045449
presenilin-1 sequence variant T99A (human)
hPSEN1/var:T99A
"A presenilin-1 sequence variant (human) that has an Ala residue at the position equivalent to Thr-99 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Thr-99, CHEBI:46217." [Alzforum:KD, PMID:23638752, PRO:DAN]
organism-sequence
PR:000045450
presenilin-1 sequence variant R108Q (human)
hPSEN1/var:R108Q
"A presenilin-1 sequence variant (human) that has a Gln residue at the position equivalent to Arg-108 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Arg-108, CHEBI:30011." [Alzforum:KD, PMID:22221884, PRO:DAN]
organism-sequence
PR:000045451
presenilin-1 sequence variant T116R (human)
hPSEN1/var:T116R
"A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Thr-116 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Thr-116, CHEBI:29952." [Alzforum:KD, PMID:11395394, PRO:DAN]
Yes
organism-sequence
PR:000045452
presenilin-1 sequence variant H131R (human)
hPSEN1/var:H131R
"A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to His-131 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, His-131, CHEBI:29952." [Alzforum:KD, PMID:23638752, PRO:DAN]
organism-sequence
PR:000045453
presenilin-1 sequence variant L134R (human)
hPSEN1/var:L134R
"A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Leu-134 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-134, CHEBI:29952." [Alzforum:KD, PMID:22503161, PRO:DAN]
Yes
organism-sequence
PR:000045454
presenilin-1 sequence variant L150P (human)
hPSEN1/var:L150P
"A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Leu-150 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-150, CHEBI:50342." [Alzforum:KD, PMID:22475797, PRO:DAN]
Yes
organism-sequence
PR:000045455
presenilin-1 sequence variant A164V (human)
hPSEN1/var:A164V
"A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Ala-164 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-164, CHEBI:30015." [Alzforum:KD, PMID:26350633, PRO:DAN]
Yes
organism-sequence
PR:000045456
presenilin-1 sequence variant L166V (human)
hPSEN1/var:L166V
"A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Leu-166 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-166, CHEBI:30015." [Alzforum:KD, PMID:24880964, PRO:DAN]
Yes
organism-sequence
PR:000045457
presenilin-1 sequence variant I168T (human)
hPSEN1/var:I168T
"A presenilin-1 sequence variant (human) that has a Thr residue at the position equivalent to Ile-168 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-168, CHEBI:30013." [Alzforum:KD, PMID:25104557, PRO:DAN]
organism-sequence
PR:000045458
presenilin-1 sequence variant F176L (human)
hPSEN1/var:F176L
"A presenilin-1 sequence variant (human) that has a Leu residue at the position equivalent to Phe-176 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Phe-176, CHEBI:30006." [Alzforum:KD, PMID:23246540, PRO:DAN]
organism-sequence
PR:000045459
presenilin-1 sequence variant E184G (human)
hPSEN1/var:E184G
"A presenilin-1 sequence variant (human) that has a Gly residue at the position equivalent to Glu-184 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Glu-184, CHEBI:29947." [Alzforum:KD, PMID:22475797, PRO:DAN]
Yes
organism-sequence
PR:000045460
presenilin-1 sequence variant I202F (human)
hPSEN1/var:I202F
"A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Ile-202 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-202, CHEBI:29997." [Alzforum:KD, PMID:21144619, PRO:DAN]
Yes
organism-sequence
PR:000045461
presenilin-1 sequence variant L219R (human)
hPSEN1/var:L219R
"A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Leu-219 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-219, CHEBI:29952." [Alzforum:KD, PMID:23638752, PRO:DAN]
organism-sequence
PR:000045462
presenilin-1 sequence variant L226F (human)
hPSEN1/var:L226F
"A presenilin-1 sequence variant (human) that has a Phe residue at the position equivalent to Leu-226 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-226, CHEBI:29997." [Alzforum:KD, PMID:16546171, PRO:DAN]
Yes
organism-sequence
PR:000045463
presenilin-1 sequence variant S230R (human)
hPSEN1/var:S230R
"A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Ser-230 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ser-230, CHEBI:29952." [Alzforum:KD, PMID:24880964, PRO:DAN]
Yes
organism-sequence
PR:000045464
presenilin-1 sequence variant S230I (human)
hPSEN1/var:S230I
"A presenilin-1 sequence variant (human) that has an Ile residue at the position equivalent to Ser-230 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ser-230, CHEBI:30009." [Alzforum:KD, PMID:22475797, PRO:DAN]
Yes
organism-sequence
PR:000045465
presenilin-1 sequence variant A231P (human)
hPSEN1/var:A231P
"A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Ala-231 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-231, CHEBI:50342." [Alzforum:KD, PMID:26242991, PRO:DAN]
Yes
organism-sequence
PR:000045466
presenilin-1 sequence variant L235R (human)
hPSEN1/var:L235R
"A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Leu-235 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-235, CHEBI:29952." [Alzforum:KD, PMID:21501661, PRO:DAN]
Yes
organism-sequence
PR:000045467
presenilin-1 sequence variant A246P (human)
hPSEN1/var:A246P
"A presenilin-1 sequence variant (human) that has a Pro residue at the position equivalent to Ala-246 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-246, CHEBI:50342." [Alzforum:KD, PMID:26350633, PRO:DAN]
Yes
organism-sequence
PR:000045468
presenilin-1 sequence variant L262V (human)
hPSEN1/var:L262V
"A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Leu-262 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Leu-262, CHEBI:30015." [Alzforum:KD, PMID:22475797, PMID:22503161, PRO:DAN]
Yes
organism-sequence
PR:000045469
presenilin-1 sequence variant E273G (human)
hPSEN1/var:E273G
"A presenilin-1 sequence variant (human) that has a Gly residue at the position equivalent to Glu-273 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Glu-273, CHEBI:29947." [Alzforum:KD, PMID:22475797, PRO:DAN]
Yes
organism-sequence
PR:000045470
presenilin-1 sequence variant E280K (human)
hPSEN1/var:E280K
"A presenilin-1 sequence variant (human) that has a Lys residue at the position equivalent to Glu-280 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Glu-280, CHEBI:29967." [Alzforum:KD, PMID:26396515, PRO:DAN]
Yes
organism-sequence
PR:000045471
presenilin-1 sequence variant R352C (human)
hPSEN1/var:R352C
"A presenilin-1 sequence variant (human) that has a Cys residue at the position equivalent to Arg-352 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Arg-352, CHEBI:29950." [Alzforum:KD, PMID:25595498, PRO:DAN]
organism-sequence
PR:000045472
presenilin-1 sequence variant R377W (human)
hPSEN1/var:R377W
"A presenilin-1 sequence variant (human) that has a Trp residue at the position equivalent to Arg-377 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Arg-377, CHEBI:29954." [Alzforum:KD, PMID:21822699, PMID:22475797, PRO:DAN]
Yes
organism-sequence
PR:000045473
presenilin-1 sequence variant S390N (human)
hPSEN1/var:S390N
"A presenilin-1 sequence variant (human) that has an Asn residue at the position equivalent to Ser-390 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ser-390, CHEBI:50347." [Alzforum:KD, PMID:26242991, PRO:DAN]
Yes
organism-sequence
PR:000045474
presenilin-1 sequence variant A396T (human)
hPSEN1/var:A396T
"A presenilin-1 sequence variant (human) that has a Thr residue at the position equivalent to Ala-396 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ala-396, CHEBI:30013." [Alzforum:KD, PMID:22503161, PRO:DAN]
Yes
organism-sequence
PR:000045475
presenilin-1 sequence variant I437V (human)
hPSEN1/var:I437V
"A presenilin-1 sequence variant (human) that has a Val residue at the position equivalent to Ile-437 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ile-437, CHEBI:30015." [Alzforum:KD, PMID:26242991, PRO:DAN]
Yes
organism-sequence
PR:000050490
presenilin-1 sequence variant P433S (human)
hPSEN1/var:P433S
"A presenilin-1 sequence variant (human) that has a Ser residue at the position equivalent to Pro-433 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Pro-433, CHEBI:29999." [PRO:DAN, UniProtKB_VAR:VAR_075279]
Back to top
Functional Annotation (PRO-centric view)
Switch to
GO Centric View
PRO Term
GO Annotation
Evidence
PR:000037557
hPSEN1/var:A79V
Example: UniProtKB:P49768-1, Ala-79, CHEBI:30015
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-a79v
PR:000037558
hPSEN1/var:V82L
Example: UniProtKB:P49768-1, Val-82, CHEBI:30006
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-v82l
PR:000037559
hPSEN1/var:L85P
Example: UniProtKB:P49768-1, Leu-85, CHEBI:50342
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-l85p
PR:000037560
hPSEN1/var:V89L
Example: UniProtKB:P49768-1, Val-89, CHEBI:30006
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-v89l
PR:000037561
hPSEN1/var:C92S
Example: UniProtKB:P49768-1, Cys-92, CHEBI:29999
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-c92s
PR:000037562
hPSEN1/var:V94M
Example: UniProtKB:P49768-1, Val-94, CHEBI:16044
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-v94m
PR:000037563
hPSEN1/var:V96F
Example: UniProtKB:P49768-1, Val-96, CHEBI:29997
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-v96f
PR:000037564
hPSEN1/var:V97L
Example: UniProtKB:P49768-1, Val-97, CHEBI:30006
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-v97l
PR:000037565
hPSEN1/var:F105I
Example: UniProtKB:P49768-1, Phe-105, CHEBI:30009
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-f105i
PR:000037566
hPSEN1/var:F105V
Example: UniProtKB:P49768-1, Phe-105, CHEBI:30015
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-f105v
PR:000037567
hPSEN1/var:F105C
Example: UniProtKB:P49768-1, Phe-105, CHEBI:29950
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-f105c
PR:000037568
hPSEN1/var:F105L
Example: UniProtKB:P49768-1, Phe-105, CHEBI:30006
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-f105l
PR:000037569
hPSEN1/var:L113Q
Example: UniProtKB:P49768-1, Leu-113, CHEBI:30011
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-l113q
PR:000037571
hPSEN1/var:Y115H
Example: UniProtKB:P49768-1, Tyr-115, CHEBI:29979
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-y115h
PR:000037572
hPSEN1/var:Y115C
Example: UniProtKB:P49768-1, Tyr-115, CHEBI:29950
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-y115c
PR:000037573
hPSEN1/var:Y115D
Example: UniProtKB:P49768-1, Tyr-115, CHEBI:29958
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-y115d
PR:000037574
hPSEN1/var:T116I
Example: UniProtKB:P49768-1, Thr-116, CHEBI:30009
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-t116i
PR:000037575
hPSEN1/var:T116N
Example: UniProtKB:P49768-1, Thr-116, CHEBI:50347
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-t116n
PR:000037576
hPSEN1/var:P117S
Example: UniProtKB:P49768-1, Pro-117, CHEBI:29999
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-p117s
PR:000037577
hPSEN1/var:P117R
Example: UniProtKB:P49768-1, Pro-117, CHEBI:29952
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-p117r
PR:000037578
hPSEN1/var:P117A
Example: UniProtKB:P49768-1, Pro-117, CHEBI:46217
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-p117a
PR:000037579
hPSEN1/var:P117L
Example: UniProtKB:P49768-1, Pro-117, CHEBI:30006
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-p117l
PR:000037580
hPSEN1/var:E120K
Example: UniProtKB:P49768-1, Glu-120, CHEBI:29967
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-e120k
PR:000037581
hPSEN1/var:E120G
Example: UniProtKB:P49768-1, Glu-120, CHEBI:29947
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-e120g
PR:000037582
hPSEN1/var:E120D
Example: UniProtKB:P49768-1, Glu-120, CHEBI:29958
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-e120d-acDUPE
DO:10652
Alzheimer's disease
Alzforum:psen1-e120d-acDUPE
PR:000037583
hPSEN1/var:E123K
Example: UniProtKB:P49768-1, Glu-123, CHEBI:29967
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-e123k
PR:000037584
hPSEN1/var:N135D
Example: UniProtKB:P49768-1, Asn-135, CHEBI:29958
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-n135d
PR:000037585
hPSEN1/var:N135S
Example: UniProtKB:P49768-1, Asn-135, CHEBI:29999
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-n135s
PR:000037586
hPSEN1/var:A136G
Example: UniProtKB:P49768-1, Ala-136, CHEBI:29947
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-a136g
PR:000037587
hPSEN1/var:M139T
Example: UniProtKB:P49768-1, Met-139, CHEBI:30013
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-m139t
PR:000037588
hPSEN1/var:M139V
Example: UniProtKB:P49768-1, Met-139, CHEBI:30015
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-m139v
PR:000037589
hPSEN1/var:M139K
Example: UniProtKB:P49768-1, Met-139, CHEBI:29967
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-m139k
PR:000037590
hPSEN1/var:M139I
Example: UniProtKB:P49768-1, Met-139, CHEBI:30009
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-m139i-gcDUPE
DO:10652
Alzheimer's disease
Alzforum:psen1-m139i-gcDUPE
PR:000037591
hPSEN1/var:I143N
Example: UniProtKB:P49768-1, Ile-143, CHEBI:50347
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-i143n
PR:000037592
hPSEN1/var:I143V
Example: UniProtKB:P49768-1, Ile-143, CHEBI:30015
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-i143v
PR:000037593
hPSEN1/var:I143F
Example: UniProtKB:P49768-1, Ile-143, CHEBI:29997
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-i143f
PR:000037594
hPSEN1/var:I143T
Example: UniProtKB:P49768-1, Ile-143, CHEBI:30013
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-i143t
PR:000037595
hPSEN1/var:I143M
Example: UniProtKB:P49768-1, Ile-143, CHEBI:16044
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-i143m
PR:000037596
hPSEN1/var:M146L
Example: UniProtKB:P49768-1, Met-146, CHEBI:30006
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-m146l-acDUPE
DO:10652
Alzheimer's disease
Alzforum:psen1-m146l-acDUPE
PR:000037597
hPSEN1/var:M146I
Example: UniProtKB:P49768-1, Met-146, CHEBI:30009
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-m146i-gtDUPE
DO:10652
Alzheimer's disease
Alzforum:psen1-m146i-gtDUPE
DO:10652
Alzheimer's disease
Alzforum:psen1-m146i-gtDUPE
PR:000037598
hPSEN1/var:M146V
Example: UniProtKB:P49768-1, Met-146, CHEBI:30015
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-m146v
PR:000037599
hPSEN1/var:T147P
Example: UniProtKB:P49768-1, Thr-147, CHEBI:50342
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-t147p
PR:000037600
hPSEN1/var:T147I
Example: UniProtKB:P49768-1, Thr-147, CHEBI:30009
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-t147i
PR:000037601
hPSEN1/var:L153V
Example: UniProtKB:P49768-1, Leu-153, CHEBI:30015
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-l153v
PR:000037602
hPSEN1/var:Y154N
Example: UniProtKB:P49768-1, Tyr-154, CHEBI:50347
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-y154n
PR:000037603
hPSEN1/var:Y154C
Example: UniProtKB:P49768-1, Tyr-154, CHEBI:29950
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-y154c
PR:000037604
hPSEN1/var:H163Y
Example: UniProtKB:P49768-1, His-163, CHEBI:46858
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-h163y
PR:000037606
hPSEN1/var:H163R
Example: UniProtKB:P49768-1, His-163, CHEBI:29952
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-h163r
PR:000037607
hPSEN1/var:W165G
Example: UniProtKB:P49768-1, Trp-165, CHEBI:29947
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-w165g
PR:000037608
hPSEN1/var:W165C
Example: UniProtKB:P49768-1, Trp-165, CHEBI:29950
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-w165c
PR:000037609
hPSEN1/var:L166R
Example: UniProtKB:P49768-1, Leu-166, CHEBI:29952
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-l166r
PR:000037610
hPSEN1/var:L166P
Example: UniProtKB:P49768-1, Leu-166, CHEBI:50342
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-l166p
PR:000037611
hPSEN1/var:L166H
Example: UniProtKB:P49768-1, Leu-166, CHEBI:29979
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-l166h
PR:000037612
hPSEN1/var:L166del
Example: UniProtKB:P49768-1, 1-165, 167-467
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-l166del
PR:000037613
hPSEN1/var:I167del
Example: UniProtKB:P49768-1, 1-166, 168-467
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-i167del
PR:000037614
hPSEN1/var:I168del
Example: UniProtKB:P49768-1, 1-167, 169-467
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-i168del
PR:000037615
hPSEN1/var:S169L
Example: UniProtKB:P49768-1, Ser-169, CHEBI:30006
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-s169l
PR:000037616
hPSEN1/var:S169P
Example: UniProtKB:P49768-1, Ser-169, CHEBI:50342
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-s169p
PR:000037617
hPSEN1/var:S170F
Example: UniProtKB:P49768-1, Ser-170, CHEBI:29997
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-s170f
PR:000037618
hPSEN1/var:L171P
Example: UniProtKB:P49768-1, Leu-171, CHEBI:50342
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-l171p
PR:000037619
hPSEN1/var:L173W
Example: UniProtKB:P49768-1, Leu-173, CHEBI:29954
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-l173w
PR:000037620
hPSEN1/var:L173F
Example: UniProtKB:P49768-1, Leu-173, CHEBI:29997
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-l173f-gtDUPE
DO:10652
Alzheimer's disease
Alzforum:psen1-l173f-gtDUPE
PR:000037621
hPSEN1/var:L174R
Example: UniProtKB:P49768-1, Leu-174, CHEBI:29952
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-l174r
PR:000037622
hPSEN1/var:L174M
Example: UniProtKB:P49768-1, Leu-174, CHEBI:16044
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-l174m
PR:000037624
hPSEN1/var:F177S
Example: UniProtKB:P49768-1, Phe-177, CHEBI:29999
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-f177s
PR:000037625
hPSEN1/var:F177L
Example: UniProtKB:P49768-1, Phe-177, CHEBI:30006
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-f177l
PR:000037626
hPSEN1/var:S178P
Example: UniProtKB:P49768-1, Ser-178, CHEBI:50342
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-s178p
PR:000037627
hPSEN1/var:G183V
Example: UniProtKB:P49768-1, Gly-183, CHEBI:30015
associated_with_disease_progression
DO:680
tauopathy
Alzforum:psen1-g183v
PR:000037628
hPSEN1/var:E184D
Example: UniProtKB:P49768-1, Glu-184, CHEBI:29958
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-e184d
PR:000037630
hPSEN1/var:G206A
Example: UniProtKB:P49768-1, Gly-206, CHEBI:46217
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-g206a
PR:000037631
hPSEN1/var:G206S
Example: UniProtKB:P49768-1, Gly-206, CHEBI:29999
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-g206s
PR:000037632
hPSEN1/var:G206V
Example: UniProtKB:P49768-1, Gly-206, CHEBI:30015
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-g206v
PR:000037633
hPSEN1/var:G206D
Example: UniProtKB:P49768-1, Gly-206, CHEBI:29958
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-g206d
PR:000037634
hPSEN1/var:G209E
Example: UniProtKB:P49768-1, Gly-209, CHEBI:29972
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-g209e
PR:000037635
hPSEN1/var:G209R
Example: UniProtKB:P49768-1, Gly-209, CHEBI:29952
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-g209r
PR:000037636
hPSEN1/var:G209V
Example: UniProtKB:P49768-1, Gly-209, CHEBI:30015
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-g209v
PR:000037637
hPSEN1/var:S212Y
Example: UniProtKB:P49768-1, Ser-212, CHEBI:46858
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-s212y
PR:000037638
hPSEN1/var:I213T
Example: UniProtKB:P49768-1, Ile-213, CHEBI:30013
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-i213t
PR:000037639
hPSEN1/var:I213F
Example: UniProtKB:P49768-1, Ile-213, CHEBI:29997
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-i213f
PR:000037640
hPSEN1/var:H214Y
Example: UniProtKB:P49768-1, His-214, CHEBI:46858
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-h214y
PR:000037641
hPSEN1/var:H214D
Example: UniProtKB:P49768-1, His-214, CHEBI:29958
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-h214d
PR:000037642
hPSEN1/var:G217D
Example: UniProtKB:P49768-1, Gly-217, CHEBI:29958
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-g217d
PR:000037643
hPSEN1/var:G217R
Example: UniProtKB:P49768-1, Gly-217, CHEBI:29952
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-g217r
PR:000037644
hPSEN1/var:L219F
Example: UniProtKB:P49768-1, Leu-219, CHEBI:29997
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-l219f
PR:000037645
hPSEN1/var:L219P
Example: UniProtKB:P49768-1, Leu-219, CHEBI:50342
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-l219p
PR:000037646
hPSEN1/var:Q222R
Example: UniProtKB:P49768-1, Gln-222, CHEBI:29952
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-q222r
PR:000037647
hPSEN1/var:Q222H
Example: UniProtKB:P49768-1, Gln-222, CHEBI:29979
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-q222h
PR:000037648
hPSEN1/var:Q223R
Example: UniProtKB:P49768-1, Gln-223, CHEBI:29952
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-q223r
PR:000037649
hPSEN1/var:L226R
Example: UniProtKB:P49768-1, Leu-226, CHEBI:29952
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-l226r
PR:000037650
hPSEN1/var:I229F
Example: UniProtKB:P49768-1, Ile-229, CHEBI:29997
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-i229f
PR:000037651
hPSEN1/var:A231V
Example: UniProtKB:P49768-1, Ala-231, CHEBI:30015
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-a231v
PR:000037652
hPSEN1/var:A231T
Example: UniProtKB:P49768-1, Ala-231, CHEBI:30013
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-a231t
PR:000037653
hPSEN1/var:M233L
Example: UniProtKB:P49768-1, Met-233, CHEBI:30006
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-m233l-acDUPE
PR:000037654
hPSEN1/var:M233T
Example: UniProtKB:P49768-1, Met-233, CHEBI:30013
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-m233t
PR:000037655
hPSEN1/var:M233I
Example: UniProtKB:P49768-1, Met-233, CHEBI:30009
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-m233i-gcDUPE
DO:10652
Alzheimer's disease
Alzforum:psen1-m233i-gcDUPE
PR:000037656
hPSEN1/var:M233V
Example: UniProtKB:P49768-1, Met-233, CHEBI:30015
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-m233v
PR:000037657
hPSEN1/var:L235P
Example: UniProtKB:P49768-1, Leu-235, CHEBI:50342
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-l235p
PR:000037658
hPSEN1/var:L235V
Example: UniProtKB:P49768-1, Leu-235, CHEBI:30015
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-l235v
PR:000037659
hPSEN1/var:F237L
Example: UniProtKB:P49768-1, Phe-237, CHEBI:30006
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-f237l
PR:000037660
hPSEN1/var:F237I
Example: UniProtKB:P49768-1, Phe-237, CHEBI:30009
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-f237i
PR:000037661
hPSEN1/var:I238M
Example: UniProtKB:P49768-1, Ile-238, CHEBI:16044
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-i238m
PR:000037662
hPSEN1/var:K239N
Example: UniProtKB:P49768-1, Lys-239, CHEBI:50347
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-k239n
PR:000037663
hPSEN1/var:T245P
Example: UniProtKB:P49768-1, Thr-245, CHEBI:50342
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-t245p
PR:000037664
hPSEN1/var:A246E
Example: UniProtKB:P49768-1, Ala-246, CHEBI:29972
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-a246e
PR:000037665
hPSEN1/var:L248R
Example: UniProtKB:P49768-1, Leu-248, CHEBI:29952
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-l248r
PR:000037666
hPSEN1/var:L248P
Example: UniProtKB:P49768-1, Leu-248, CHEBI:50342
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-l248p
PR:000037667
hPSEN1/var:L250S
Example: UniProtKB:P49768-1, Leu-250, CHEBI:29999
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-l250s
PR:000037668
hPSEN1/var:L250V
Example: UniProtKB:P49768-1, Leu-250, CHEBI:30015
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-l250v
PR:000037669
hPSEN1/var:Y256S
Example: UniProtKB:P49768-1, Tyr-256, CHEBI:29999
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-y256s
PR:000037670
hPSEN1/var:A260V
Example: UniProtKB:P49768-1, Ala-260, CHEBI:30015
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-a260v
PR:000037671
hPSEN1/var:V261F
Example: UniProtKB:P49768-1, Val-261, CHEBI:29997
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-v261f
PR:000037672
hPSEN1/var:V261L
Example: UniProtKB:P49768-1, Val-261, CHEBI:30006
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-v261l
PR:000037673
hPSEN1/var:L262F
Example: UniProtKB:P49768-1, Leu-262, CHEBI:29997
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-l262f
PR:000037674
hPSEN1/var:C263R
Example: UniProtKB:P49768-1, Cys-263, CHEBI:29952
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-c263r
PR:000037675
hPSEN1/var:C263F
Example: UniProtKB:P49768-1, Cys-263, CHEBI:29997
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-c263f
PR:000037676
hPSEN1/var:P264L
Example: UniProtKB:P49768-1, Pro-264, CHEBI:30006
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-p264l
PR:000037677
hPSEN1/var:G266S
Example: UniProtKB:P49768-1, Gly-266, CHEBI:29999
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-g266s
DO:9246
cerebral amyloid angiopathy
Alzforum:psen1-g266s
PR:000037678
hPSEN1/var:P267S
Example: UniProtKB:P49768-1, Pro-267, CHEBI:29999
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-p267s
PR:000037680
hPSEN1/var:R269H
Example: UniProtKB:P49768-1, Arg-269, CHEBI:29979
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-r269h
PR:000037681
hPSEN1/var:R269G
Example: UniProtKB:P49768-1, Arg-269, CHEBI:29947
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-r269g
PR:000037682
hPSEN1/var:L271V
Example: UniProtKB:P49768-1, Leu-271, CHEBI:30015
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-l271v
PR:000037683
hPSEN1/var:V272A
Example: UniProtKB:P49768-1, Val-272, CHEBI:46217
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-v272a
PR:000037684
hPSEN1/var:E273A
Example: UniProtKB:P49768-1, Glu-273, CHEBI:46217
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-e273a
PR:000037685
hPSEN1/var:T274R
Example: UniProtKB:P49768-1, Thr-274, CHEBI:29952
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-t274r
PR:000037686
hPSEN1/var:A275V
Example: UniProtKB:P49768-1, Ala-275, CHEBI:30015
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-a275v
PR:000037687
hPSEN1/var:R278I
Example: UniProtKB:P49768-1, Arg-278, CHEBI:30009
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-r278i
PR:000037688
hPSEN1/var:R278K
Example: UniProtKB:P49768-1, Arg-278, CHEBI:29967
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-r278k
PR:000037689
hPSEN1/var:R278T
Example: UniProtKB:P49768-1, Arg-278, CHEBI:30013
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-r278t
PR:000037690
hPSEN1/var:R278S
Example: UniProtKB:P49768-1, Arg-278, CHEBI:29999
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-r278s
PR:000037691
hPSEN1/var:E280A
Example: UniProtKB:P49768-1, Glu-280, CHEBI:46217
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-e280a-paisa
PR:000037692
hPSEN1/var:E280G
Example: UniProtKB:P49768-1, Glu-280, CHEBI:29947
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-e280g
PR:000037693
hPSEN1/var:L282V
Example: UniProtKB:P49768-1, Leu-282, CHEBI:30015
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-l282v
PR:000037694
hPSEN1/var:L282F
Example: UniProtKB:P49768-1, Leu-282, CHEBI:29997
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-l282f
PR:000037695
hPSEN1/var:L282R
Example: UniProtKB:P49768-1, Leu-282, CHEBI:29952
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-l282r
PR:000037696
hPSEN1/var:P284L
Example: UniProtKB:P49768-1, Pro-284, CHEBI:30006
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-p284l
PR:000037697
hPSEN1/var:P284S
Example: UniProtKB:P49768-1, Pro-284, CHEBI:29999
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-p284s
PR:000037698
hPSEN1/var:A285V
Example: UniProtKB:P49768-1, Ala-285, CHEBI:30015
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-a285v
PR:000037699
hPSEN1/var:L286V
Example: UniProtKB:P49768-1, Leu-286, CHEBI:30015
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-l286v
PR:000037700
hPSEN1/var:L286P
Example: UniProtKB:P49768-1, Leu-286, CHEBI:50342
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-l286p
DO:9246
cerebral amyloid angiopathy
Alzforum:psen1-l286p
PR:000037701
hPSEN1/var:T291P
Example: UniProtKB:P49768-1, Thr-291, CHEBI:50342
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-t291p
PR:000037705
hPSEN1/var:R358Q
Example: UniProtKB:P49768-1, Arg-358, CHEBI:30011
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-r358q
PR:000037706
hPSEN1/var:S365A
Example: UniProtKB:P49768-1, Ser-365, CHEBI:46217
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-s365a
PR:000037708
hPSEN1/var:R377M
Example: UniProtKB:P49768-1, Arg-377, CHEBI:16044
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-r377m
PR:000037709
hPSEN1/var:G378E
Example: UniProtKB:P49768-1, Gly-378, CHEBI:29972
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-g378e
DO:9246
cerebral amyloid angiopathy
Alzforum:psen1-g378e
PR:000037710
hPSEN1/var:G378V
Example: UniProtKB:P49768-1, Gly-378, CHEBI:30015
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-g378v
PR:000037711
hPSEN1/var:L381V
Example: UniProtKB:P49768-1, Leu-381, CHEBI:30015
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-l381v
PR:000037712
hPSEN1/var:L381F
Example: UniProtKB:P49768-1, Leu-381, CHEBI:29997
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-l381f
PR:000037713
hPSEN1/var:G384A
Example: UniProtKB:P49768-1, Gly-384, CHEBI:46217
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-g384a
PR:000037714
hPSEN1/var:F386S
Example: UniProtKB:P49768-1, Phe-386, CHEBI:29999
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-f386s
PR:000037715
hPSEN1/var:S390I
Example: UniProtKB:P49768-1, Ser-390, CHEBI:30009
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-s390i
PR:000037716
hPSEN1/var:V391F
Example: UniProtKB:P49768-1, Val-391, CHEBI:29997
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-v391f
PR:000037717
hPSEN1/var:L392V
Example: UniProtKB:P49768-1, Leu-392, CHEBI:30015
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-l392v
PR:000037718
hPSEN1/var:L392P
Example: UniProtKB:P49768-1, Leu-392, CHEBI:50342
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-l392p
PR:000037719
hPSEN1/var:G394V
Example: UniProtKB:P49768-1, Gly-394, CHEBI:30015
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-g394v
PR:000037720
hPSEN1/var:N405S
Example: UniProtKB:P49768-1, Asn-405, CHEBI:29999
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-n405s
PR:000037721
hPSEN1/var:A409T
Example: UniProtKB:P49768-1, Ala-409, CHEBI:30013
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-a409t
PR:000037722
hPSEN1/var:C410Y
Example: UniProtKB:P49768-1, Cys-410, CHEBI:46858
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-c410y
PR:000037724
hPSEN1/var:L418F
Example: UniProtKB:P49768-1, Leu-418, CHEBI:29997
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-l418f
PR:000037725
hPSEN1/var:L420R
Example: UniProtKB:P49768-1, Leu-420, CHEBI:29952
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-l420r
PR:000037726
hPSEN1/var:L424H
Example: UniProtKB:P49768-1, Leu-424, CHEBI:29979
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-l424h
PR:000037727
hPSEN1/var:L424R
Example: UniProtKB:P49768-1, Leu-424, CHEBI:29952
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-l424r
PR:000037728
hPSEN1/var:L424F
Example: UniProtKB:P49768-1, Leu-424, CHEBI:29997
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-l424f
PR:000037729
hPSEN1/var:L424V
Example: UniProtKB:P49768-1, Leu-424, CHEBI:30015
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-l424v
PR:000037730
hPSEN1/var:A426P
Example: UniProtKB:P49768-1, Ala-426, CHEBI:50342
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-a426p
PR:000037731
hPSEN1/var:A431V
Example: UniProtKB:P49768-1, Ala-431, CHEBI:30015
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-a431v
PR:000037732
hPSEN1/var:A431E
Example: UniProtKB:P49768-1, Ala-431, CHEBI:29972
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-a431e-jalisco
PR:000037733
hPSEN1/var:A434C
Example: UniProtKB:P49768-1, Ala-434, CHEBI:29950
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-a434c
PR:000037734
hPSEN1/var:A434T
Example: UniProtKB:P49768-1, Ala-434, CHEBI:30013
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-a434t
PR:000037735
hPSEN1/var:L435F
Example: UniProtKB:P49768-1, Leu-435, CHEBI:29997
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-l435f
PR:000037736
hPSEN1/var:P436S
Example: UniProtKB:P49768-1, Pro-436, CHEBI:29999
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-p436s
PR:000037737
hPSEN1/var:P436Q
Example: UniProtKB:P49768-1, Pro-436, CHEBI:30011
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-p436q
PR:000037738
hPSEN1/var:I439S
Example: UniProtKB:P49768-1, Ile-439, CHEBI:29999
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-i439s
PR:000037740
hPSEN1/var:T440del
Example: UniProtKB:P49768-1, 1-439, 441-467
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-t440del
PR:000044551
hPSEN1/var:F386I
Example: UniProtKB:P49768-1, Phe-386, CHEBI:30009
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-f386i
PR:000044552
hPSEN1/var:F388L
Example: UniProtKB:P49768-1, Phe-388, CHEBI:30006
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-f388l
PR:000044553
hPSEN1/var:G209A
Example: UniProtKB:P49768-1, Gly-209, CHEBI:46217
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-g209a
PR:000044554
hPSEN1/var:H214N
Example: UniProtKB:P49768-1, His-214, CHEBI:50347
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-h214n
PR:000044555
hPSEN1/var:I408T
Example: UniProtKB:P49768-1, Ile-408, CHEBI:30013
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-i408t
PR:000044556
hPSEN1/var:N135Y
Example: UniProtKB:P49768-1, Asn-135, CHEBI:46858
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-n135y
PR:000044557
hPSEN1/var:P267A
Example: UniProtKB:P49768-1, Pro-267, CHEBI:46217
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-p267a
PR:000044558
hPSEN1/var:R220P
Example: UniProtKB:P49768-1, Arg-220, CHEBI:50342
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-r220p
PR:000044559
hPSEN1/var:S169del
Example: UniProtKB:P49768-1, 1-168, 170-467
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-s169del-%CE%B4s169
PR:000045448
hPSEN1/var:I83T
Example: UniProtKB:P49768-1, Ile-83, CHEBI:30013
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-i83t
PR:000045451
hPSEN1/var:T116R
Example: UniProtKB:P49768-1, Thr-116, CHEBI:29952
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-t116r
PR:000045453
hPSEN1/var:L134R
Example: UniProtKB:P49768-1, Leu-134, CHEBI:29952
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-l134r
PR:000045454
hPSEN1/var:L150P
Example: UniProtKB:P49768-1, Leu-150, CHEBI:50342
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-l150p
PR:000045455
hPSEN1/var:A164V
Example: UniProtKB:P49768-1, Ala-164, CHEBI:30015
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-a164v
PR:000045456
hPSEN1/var:L166V
Example: UniProtKB:P49768-1, Leu-166, CHEBI:30015
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-l166v
PR:000045459
hPSEN1/var:E184G
Example: UniProtKB:P49768-1, Glu-184, CHEBI:29947
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-e184g
PR:000045460
hPSEN1/var:I202F
Example: UniProtKB:P49768-1, Ile-202, CHEBI:29997
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-i202f
PR:000045462
hPSEN1/var:L226F
Example: UniProtKB:P49768-1, Leu-226, CHEBI:29997
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-l226f
PR:000045463
hPSEN1/var:S230R
Example: UniProtKB:P49768-1, Ser-230, CHEBI:29952
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-s230r
PR:000045464
hPSEN1/var:S230I
Example: UniProtKB:P49768-1, Ser-230, CHEBI:30009
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-s230i
PR:000045465
hPSEN1/var:A231P
Example: UniProtKB:P49768-1, Ala-231, CHEBI:50342
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-a231p
PR:000045466
hPSEN1/var:L235R
Example: UniProtKB:P49768-1, Leu-235, CHEBI:29952
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-l235r
PR:000045467
hPSEN1/var:A246P
Example: UniProtKB:P49768-1, Ala-246, CHEBI:50342
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-a246p
PR:000045468
hPSEN1/var:L262V
Example: UniProtKB:P49768-1, Leu-262, CHEBI:30015
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-l262v
PR:000045469
hPSEN1/var:E273G
Example: UniProtKB:P49768-1, Glu-273, CHEBI:29947
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-e273g
PR:000045470
hPSEN1/var:E280K
Example: UniProtKB:P49768-1, Glu-280, CHEBI:29967
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-e280k
PR:000045472
hPSEN1/var:R377W
Example: UniProtKB:P49768-1, Arg-377, CHEBI:29954
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-r377w
PR:000045473
hPSEN1/var:S390N
Example: UniProtKB:P49768-1, Ser-390, CHEBI:50347
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-s390n
PR:000045474
hPSEN1/var:A396T
Example: UniProtKB:P49768-1, Ala-396, CHEBI:30013
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-a396t
PR:000045475
hPSEN1/var:I437V
Example: UniProtKB:P49768-1, Ile-437, CHEBI:30015
associated_with_disease_progression
DO:10652
Alzheimer's disease
Alzforum:psen1-i437v
