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organism-gene
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PR:P49768 |
presenilin-1 (human)
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hPSEN1
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"A presenilin-1 that is encoded in the genome of human." [PRO:DNx, UniProtKB:P49768]
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organism-sequence
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PR:000036285 |
presenilin-1 sequence variant (human)
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hPSEN1/var+
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"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]
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organism-sequence
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PR:000037555 |
presenilin-1 sequence variant R35Q (human)
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hPSEN1/var:R35Q
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"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]
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organism-sequence
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PR:000037556 |
presenilin-1 sequence variant D40del (human)
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hPSEN1/var:D40del
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"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]
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organism-sequence
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PR:000037557 |
presenilin-1 sequence variant A79V (human)
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hPSEN1/var:A79V
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"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]
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Yes |
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organism-sequence
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PR:000037558 |
presenilin-1 sequence variant V82L (human)
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hPSEN1/var:V82L
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"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]
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Yes |
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organism-sequence
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PR:000037559 |
presenilin-1 sequence variant L85P (human)
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hPSEN1/var:L85P
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"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]
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Yes |
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organism-sequence
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PR:000037560 |
presenilin-1 sequence variant V89L (human)
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hPSEN1/var:V89L
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"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]
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Yes |
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organism-sequence
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PR:000037561 |
presenilin-1 sequence variant C92S (human)
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hPSEN1/var:C92S
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"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]
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Yes |
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organism-sequence
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PR:000037562 |
presenilin-1 sequence variant V94M (human)
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hPSEN1/var:V94M
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"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]
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Yes |
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organism-sequence
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PR:000037563 |
presenilin-1 sequence variant V96F (human)
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hPSEN1/var:V96F
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"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]
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Yes |
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organism-sequence
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PR:000037564 |
presenilin-1 sequence variant V97L (human)
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hPSEN1/var:V97L
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"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]
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Yes |
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organism-sequence
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PR:000037565 |
presenilin-1 sequence variant F105I (human)
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hPSEN1/var:F105I
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"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]
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Yes |
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organism-sequence
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PR:000037566 |
presenilin-1 sequence variant F105V (human)
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hPSEN1/var:F105V
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"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]
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Yes |
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organism-sequence
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PR:000037567 |
presenilin-1 sequence variant F105C (human)
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hPSEN1/var:F105C
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"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]
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Yes |
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organism-sequence
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PR:000037568 |
presenilin-1 sequence variant F105L (human)
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hPSEN1/var:F105L
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"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]
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Yes |
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organism-sequence
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PR:000037569 |
presenilin-1 sequence variant L113Q (human)
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hPSEN1/var:L113Q
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"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]
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Yes |
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organism-sequence
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PR:000037570 |
presenilin-1 sequence variant L113P (human)
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hPSEN1/var:L113P
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"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]
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organism-sequence
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PR:000037571 |
presenilin-1 sequence variant Y115H (human)
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hPSEN1/var:Y115H
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"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]
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Yes |
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organism-sequence
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PR:000037572 |
presenilin-1 sequence variant Y115C (human)
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hPSEN1/var:Y115C
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"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]
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Yes |
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organism-sequence
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PR:000037573 |
presenilin-1 sequence variant Y115D (human)
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hPSEN1/var:Y115D
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"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]
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Yes |
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organism-sequence
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PR:000037574 |
presenilin-1 sequence variant T116I (human)
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hPSEN1/var:T116I
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"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]
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Yes |
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organism-sequence
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PR:000037575 |
presenilin-1 sequence variant T116N (human)
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hPSEN1/var:T116N
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"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]
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Yes |
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organism-sequence
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PR:000037576 |
presenilin-1 sequence variant P117S (human)
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hPSEN1/var:P117S
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"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]
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Yes |
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organism-sequence
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PR:000037577 |
presenilin-1 sequence variant P117R (human)
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hPSEN1/var:P117R
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"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]
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Yes |
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organism-sequence
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PR:000037578 |
presenilin-1 sequence variant P117A (human)
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hPSEN1/var:P117A
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"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]
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Yes |
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organism-sequence
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PR:000037579 |
presenilin-1 sequence variant P117L (human)
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hPSEN1/var:P117L
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"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]
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Yes |
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organism-sequence
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PR:000037580 |
presenilin-1 sequence variant E120K (human)
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hPSEN1/var:E120K
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"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]
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Yes |
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organism-sequence
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PR:000037581 |
presenilin-1 sequence variant E120G (human)
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hPSEN1/var:E120G
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"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]
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Yes |
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organism-sequence
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PR:000037582 |
presenilin-1 sequence variant E120D (human)
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hPSEN1/var:E120D
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"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]
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Yes |
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organism-sequence
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PR:000037583 |
presenilin-1 sequence variant E123K (human)
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hPSEN1/var:E123K
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"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]
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Yes |
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| |
organism-sequence
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PR:000037584 |
presenilin-1 sequence variant N135D (human)
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hPSEN1/var:N135D
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"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]
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Yes |
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organism-sequence
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PR:000037585 |
presenilin-1 sequence variant N135S (human)
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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]
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Yes |
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| |
organism-sequence
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|
PR:000037586 |
presenilin-1 sequence variant A136G (human)
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hPSEN1/var:A136G
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"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]
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Yes |
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| |
organism-sequence
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|
PR:000037587 |
presenilin-1 sequence variant M139T (human)
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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]
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Yes |
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| |
organism-sequence
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PR:000037588 |
presenilin-1 sequence variant M139V (human)
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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]
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Yes |
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| |
organism-sequence
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|
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]
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Yes |
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| |
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]
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Yes |
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| |
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]
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Yes |
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| |
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 |
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| |
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 |
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| |
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 |
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| |
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 |
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| |
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 |
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| |
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 |
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| |
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 |
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| |
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 |
|
|
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| |
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 |
|
|
|
|
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| | | | | | |
| |
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 |
|
|
|
|
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| | | | | | |
| |
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]
|
|
|
|
|
|
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| | | | | | |
| |
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]
|
|
|
|
|
|
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| | | | | | |
| |
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]
|
|
|
|
|
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|
| | | | | | |
| |
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]
|
|
|
|
|
|
|
| | | | |
| | | |
organism-sequence
|
|
PR:P49768-1 |
presenilin-1 isoform 1 (human)
|
hPSEN1/iso:1
|
"A presenilin-1 isoform 1 that is encoded in the genome of human." [PRO:DNx]
|
|
|
|
|
|
|
| | | | |
| | | |
organism-sequence
|
|
PR:P49768-2 |
presenilin-1 isoform h2 (human)
|
hPSEN1/iso:h2
|
"A presenilin-1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P49768-2." [PRO:DNx, UniProtKB:P49768]
|
|
|
|
|
|
|
| | | | |
| | | |
organism-sequence
|
|
PR:P49768-3 |
presenilin-1 isoform h3 (human)
|
hPSEN1/iso:h3
|
"A presenilin-1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P49768-3." [PRO:DNx, UniProtKB:P49768]
|
|
|
|
|
|
|
| | | | |
| | | |
organism-sequence
|
|
PR:P49768-4 |
presenilin-1 isoform h4 (human)
|
hPSEN1/iso:h4
|
"A presenilin-1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P49768-4." [PRO:DNx, UniProtKB:P49768]
|
|
|
|
|
|
|
| | | | |
| | | |
organism-sequence
|
|
PR:P49768-5 |
presenilin-1 isoform h5 (human)
|
hPSEN1/iso:h5
|
"A presenilin-1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P49768-5." [PRO:DNx, UniProtKB:P49768]
|
|
|
|
|
|
|
| | | | |
| | | |
organism-sequence
|
|
PR:P49768-6 |
presenilin-1 isoform h6 (human)
|
hPSEN1/iso:h6
|
"A presenilin-1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P49768-6." [PRO:DNx, UniProtKB:P49768]
|
|
|
|
|
|
|
| | | | |
| | | |
organism-sequence
|
|
PR:P49768-7 |
presenilin-1 isoform h7 (human)
|
hPSEN1/iso:h7
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"A presenilin-1 (human) that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P49768-7." [PRO:DNx, UniProtKB:P49768]
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organism-modification
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PR:000045805 |
presenilin-1 phosphorylated 1 (human)
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hPSEN1/Phos:1
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"A presenilin-1 (human) that has been phosphorylated on the residue at the position equivalent to Thr-354 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Thr-354, MOD:00047." [iPTMnet:P49768, PMID:12056836]
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organism-modification
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PR:000071321 |
presenilin-1 cysteinylated 1 (human)
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hPSEN1/Cyst:1
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"A presenilin-1 (human) that has been cysteinylated on the residue at the position equivalent to Cys-158 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Cys-158, MOD:00765." [IEDB_epitope:930062, PRO:DNx]
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organism-modification
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PR:000081677 |
presenilin-1 deaminated 1 (human)
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hPSEN1/Deam:1
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"A presenilin-1 (human) that has been deaminated on the residue at the position equivalent to Asn-312 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Asn-312, MOD:00684." [IEDB_epitope:554717, PRO:DNx]
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