[Term]
id: PR:000037758
name: presenilin-2 sequence variant M174V (human)
def: "A presenilin-2 sequence variant (human) that has a Val residue at the position equivalent to Met-174 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Met-174, CHEBI:30015." [Alzforum:KD, PMID:18667258, PMID:18846634, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:M174V" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810-1, Met-174, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-m174v
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037759
name: presenilin-2 sequence variant S175C (human)
def: "A presenilin-2 sequence variant (human) that has a Cys residue at the position equivalent to Ser-175 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Ser-175, CHEBI:29950." [Alzforum:KD, PMID:20164579, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:S175C" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810-1, Ser-175, CHEBI:29950" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-s175c
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037756
name: presenilin-2 sequence variant V148I (human)
def: "A presenilin-2 sequence variant (human) that has an Ile residue at the position equivalent to Val-148 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Val-148, CHEBI:30009." [Alzforum:KD, PMID:10732806, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:V148I" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810-1, Val-148, CHEBI:30009" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-v148i
xref: UniProtKB_VAR:VAR_007958
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037757
name: presenilin-2 sequence variant R163H (human)
def: "A presenilin-2 sequence variant (human) that has a His residue at the position equivalent to Arg-163 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Arg-163, CHEBI:29979." [Alzforum:KD, PMID:19632874, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:R163H" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810-1, Arg-163, CHEBI:29979" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-r163h
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037754
name: presenilin-2 sequence variant N141Y (human)
def: "A presenilin-2 sequence variant (human) that has a Tyr residue at the position equivalent to Asn-141 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Asn-141, CHEBI:46858." [Alzforum:KD, PMID:24838186, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:N141Y" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810-1, Asn-141, CHEBI:46858" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-n141y
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037755
name: presenilin-2 sequence variant L143H (human)
def: "A presenilin-2 sequence variant (human) that has a His residue at the position equivalent to Leu-143 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Leu-143, CHEBI:29979." [Alzforum:KD, PMID:18667258, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:L143H" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810-1, Leu-143, CHEBI:29979" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-l143h
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037752
name: presenilin-2 sequence variant V139M (human)
def: "A presenilin-2 sequence variant (human) that has a Met residue at the position equivalent to Val-139 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Val-139, CHEBI:16044." [Alzforum:KD, PMID:18350357, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:V139M" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810-1, Val-139, CHEBI:16044" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-v139m
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037753
name: presenilin-2 sequence variant N141I (human)
def: "A presenilin-2 sequence variant (human) that has an Ile residue at the position equivalent to Asn-141 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Asn-141, CHEBI:30009." [Alzforum:KD, PMID:7638622, PMID:7651536, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:N141I" EXACT PRO-short-label [PRO:DAN]
synonym: "Volga German PSEN2" EXACT [Alzforum_mut:psen2-n141i-volga-german]
synonym: "UniProtKB:P49810-1, Asn-141, CHEBI:30009" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-n141i-volga-german
xref: UniProtKB_VAR:VAR_006462
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037750
name: presenilin-2 sequence variant E126K (human)
def: "A presenilin-2 sequence variant (human) that has a Lys residue at the position equivalent to Glu-126 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Glu-126, CHEBI:29967." [Alzforum:KD, PMID:24844686, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:E126K" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810-1, Glu-126, CHEBI:29967" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-e126k
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037751
name: presenilin-2 sequence variant S130L (human)
def: "A presenilin-2 sequence variant (human) that has a Leu residue at the position equivalent to Ser-130 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Ser-130, CHEBI:30006." [Alzforum:KD, PMID:14623725, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:S130L" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810-1, Ser-130, CHEBI:30006" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-s130l
xref: UniProtKB_VAR:VAR_064903
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037741
name: presenilin-2 sequence variant R29H (human)
def: "A presenilin-2 sequence variant (human) that has a His residue at the position equivalent to Arg-29 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Arg-29, CHEBI:29979." [Alzforum:KD, PMID:18667258, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:R29H" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810-1, Arg-29, CHEBI:29979" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-r29h
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045478
name: presenilin-2 sequence variant P123L (human)
def: "A presenilin-2 sequence variant (human) that has a Leu residue at the position equivalent to Pro-123 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Pro-123, CHEBI:30006." [Alzforum:KD, PMID:26422362, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:P123L" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810-1, Pro-123, CHEBI:30006" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-p123l
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045479
name: presenilin-2 sequence variant K161R (human)
def: "A presenilin-2 sequence variant (human) that has an Arg residue at the position equivalent to Lys-161 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Lys-161, CHEBI:29952." [Alzforum:KD, PMID:22475797, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:K161R" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810-1, Lys-161, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-k161r
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045476
name: presenilin-2 sequence variant K82R (human)
def: "A presenilin-2 sequence variant (human) that has an Arg residue at the position equivalent to Lys-82 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Lys-82, CHEBI:29952." [Alzforum:KD, PMID:25323700, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:K82R" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810-1, Lys-82, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-k82r
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045477
name: presenilin-2 sequence variant V101M (human)
def: "A presenilin-2 sequence variant (human) that has a Met residue at the position equivalent to Val-101 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Val-101, CHEBI:16044." [Alzforum:KD, PMID:25937274, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:V101M" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810-1, Val-101, CHEBI:16044" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-v101m
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000013345
name: presenilin-2
def: "A protein that is a translation product of the human PSEN2 gene or a 1:1 ortholog thereof." [PRO:DNx]
comment: Category=gene. Requested by=Alzforum.
synonym: "AD4" RELATED Gene-based []
synonym: "AD5" EXACT []
synonym: "PS2" RELATED Gene-based []
synonym: "Ad4h" RELATED Gene-based []
synonym: "Alg3" RELATED Gene-based []
synonym: "E5-1" EXACT []
synonym: "PS-2" EXACT []
synonym: "STM2" RELATED Gene-based []
synonym: "AD3LP" EXACT []
synonym: "PSEN2" EXACT PRO-short-label [PRO:DNx]
synonym: "PSNL2" RELATED Gene-based []
synonym: "STM-2" EXACT []
xref: IUPHARobj:2403
is_a: PR:000000001 ! protein

[Term]
id: PR:P49810-1
name: presenilin-2 isoform 1 (human)
def: "A presenilin-2 isoform 1 that is encoded in the genome of human." [PMID:19376115, PRO:CNA]
comment: Category=organism-sequence.
synonym: "hPSEN2/iso:1" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:P49810-1
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000036851 ! presenilin-2 isoform 1

[Term]
id: PR:P49810-2
name: presenilin-2 isoform h2 (human)
def: "A presenilin-2 (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:P49810-2." [PRO:DNx, UniProtKB:P49810]
comment: Category=organism-sequence.
synonym: "hPSEN2/iso:h2" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:P49810-2
is_a: PR:P49810 ! presenilin-2 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:P49810-3
name: presenilin-2 isoform h3 (human)
def: "A presenilin-2 (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:P49810-3." [PRO:DNx, UniProtKB:P49810]
comment: Category=organism-sequence.
synonym: "hPSEN2/iso:h3" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:P49810-3
is_a: PR:P49810 ! presenilin-2 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037749
name: presenilin-2 sequence variant T122R (human)
def: "A presenilin-2 sequence variant (human) that has an Arg residue at the position equivalent to Thr-122 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Thr-122, CHEBI:29952." [Alzforum:KD, PMID:14681895, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:T122R" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810-1, Thr-122, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-t122r
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037748
name: presenilin-2 sequence variant T122P (human)
def: "A presenilin-2 sequence variant (human) that has a Pro residue at the position equivalent to Thr-122 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Thr-122, CHEBI:50342." [Alzforum:KD, PMID:10631141, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:T122P" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810-1, Thr-122, CHEBI:50342" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-t122p
xref: UniProtKB_VAR:VAR_009214
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000036856
name: presenilin-2 isoform PS2beta (human)
def: "A presenilin-2 isoform PS2beta that is encoded in the genome of human." [PMID:19376115, PRO:CNA]
comment: Category=organism-sequence. Note: The corresponding entry E5RJ26 has been withdrawn from UniProtKB.
synonym: "hPSEN2/iso:PS2beta" EXACT PRO-short-label [PRO:DNx]
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000036853 ! presenilin-2 isoform PS2beta

[Term]
id: PR:P49810
name: presenilin-2 (human)
def: "A presenilin-2 that is encoded in the genome of human." [PRO:DNx, UniProtKB:P49810]
comment: Category=organism-gene. Requested by=Alzforum.
synonym: "AD4" RELATED Gene-based [UniProtKB:P49810]
synonym: "PS2" RELATED Gene-based [UniProtKB:P49810]
synonym: "STM2" RELATED Gene-based [UniProtKB:P49810]
synonym: "PSEN2" RELATED Gene-based [UniProtKB:P49810]
synonym: "PSNL2" RELATED Gene-based [UniProtKB:P49810]
synonym: "hPSEN2" EXACT PRO-short-label [PRO:DNx]
synonym: "AD5 (human)" EXACT [UniProtKB:P49810]
synonym: "E5-1 (human)" EXACT [UniProtKB:P49810]
synonym: "PS-2 (human)" EXACT [UniProtKB:P49810]
synonym: "AD3LP (human)" EXACT [UniProtKB:P49810]
synonym: "STM-2 (human)" EXACT [UniProtKB:P49810]
xref: UniProtKB:P49810
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000013345 ! presenilin-2
relationship: has_gene_template HGNC:9509 ! PSEN2 (human)

[Term]
id: PR:000037743
name: presenilin-2 sequence variant R62H (human)
def: "A presenilin-2 sequence variant (human) that has a His residue at the position equivalent to Arg-62 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Arg-62, CHEBI:29979." [Alzforum:KD, PMID:19768372, PMID:9384602, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:R62H" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810-1, Arg-62, CHEBI:29979" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-r62h
xref: UniProtKB_VAR:VAR_006461
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037742
name: presenilin-2 sequence variant G34S (human)
def: "A presenilin-2 sequence variant (human) that has a Ser residue at the position equivalent to Gly-34 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Gly-34, CHEBI:29999." [Alzforum:KD, PMID:15130954, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:G34S" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810-1, Gly-34, CHEBI:29999" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-g34s
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037745
name: presenilin-2 sequence variant P69A (human)
def: "A presenilin-2 sequence variant (human) that has an Ala residue at the position equivalent to Pro-69 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Pro-69, CHEBI:46217." [Alzforum:KD, PMID:22221884, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:P69A" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810-1, Pro-69, CHEBI:46217" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-p69a
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037744
name: presenilin-2 sequence variant R62C (human)
def: "A presenilin-2 sequence variant (human) that has a Cys residue at the position equivalent to Arg-62 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Arg-62, CHEBI:29950." [Alzforum:KD, PMID:15130954, PMID:17914065, PMID:18608129, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:R62C" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810-1, Arg-62, CHEBI:29950" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-r62c
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037747
name: presenilin-2 sequence variant A85V (human)
def: "A presenilin-2 sequence variant (human) that has a Val residue at the position equivalent to Ala-85 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Ala-85, CHEBI:30015." [Alzforum:KD, PMID:18427071, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:A85V" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810-1, Ala-85, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-a85v
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037746
name: presenilin-2 sequence variant R71W (human)
def: "A presenilin-2 sequence variant (human) that has a Trp residue at the position equivalent to Arg-71 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Arg-71, CHEBI:29954." [Alzforum:KD, PMID:15130954, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:R71W" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810-1, Arg-71, CHEBI:29954" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-r71w
xref: UniProtKB_VAR:VAR_070027
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037763
name: presenilin-2 sequence variant M239V (human)
def: "A presenilin-2 sequence variant (human) that has a Val residue at the position equivalent to Met-239 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Met-239, CHEBI:30015." [Alzforum:KD, PMID:7651536, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:M239V" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810-1, Met-239, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-m239v
xref: UniProtKB_VAR:VAR_006463
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037762
name: presenilin-2 sequence variant Y231C (human)
def: "A presenilin-2 sequence variant (human) that has a Cys residue at the position equivalent to Tyr-231 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Tyr-231, CHEBI:29950." [Alzforum:KD, PMID:19276543, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:Y231C" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810-1, Tyr-231, CHEBI:29950" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-y231c
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037761
name: presenilin-2 sequence variant Q228L (human)
def: "A presenilin-2 sequence variant (human) that has a Leu residue at the position equivalent to Gln-228 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Gln-228, CHEBI:30006." [Alzforum:KD, PMID:14769392, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:Q228L" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810-1, Gln-228, CHEBI:30006" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-q228l
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037760
name: presenilin-2 sequence variant V214L (human)
def: "A presenilin-2 sequence variant (human) that has a Leu residue at the position equivalent to Val-214 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Val-214, CHEBI:30006." [Alzforum:KD, PMID:24885952, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:V214L" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810-1, Val-214, CHEBI:30006" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-v214l
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037767
name: presenilin-2 sequence variant V393M (human)
def: "A presenilin-2 sequence variant (human) that has a Met residue at the position equivalent to Val-393 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Val-393, CHEBI:16044." [Alzforum:KD, PMID:18727676, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:V393M" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810-1, Val-393, CHEBI:16044" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-v393m
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037766
name: presenilin-2 sequence variant P334R (human)
def: "A presenilin-2 sequence variant (human) that has an Arg residue at the position equivalent to Pro-334 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Pro-334, CHEBI:29952." [Alzforum:KD, PMID:11803125, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:P334R" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810-1, Pro-334, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-p334r
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037765
name: presenilin-2 sequence variant A252T (human)
def: "A presenilin-2 sequence variant (human) that has a Thr residue at the position equivalent to Ala-252 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Ala-252, CHEBI:30013." [Alzforum:KD, PMID:18667258, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:A252T" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810-1, Ala-252, CHEBI:30013" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-a252t
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037764
name: presenilin-2 sequence variant M239I (human)
def: "A presenilin-2 sequence variant (human) that has an Ile residue at the position equivalent to Met-239 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Met-239, CHEBI:30009." [Alzforum:KD, PMID:10822446, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:M239I" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810-1, Met-239, CHEBI:30009" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-m239i
xref: UniProtKB_VAR:VAR_009215
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037769
name: presenilin-2 sequence variant D439A (human)
def: "A presenilin-2 sequence variant (human) that has an Ala residue at the position equivalent to Asp-439 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Asp-439, CHEBI:46217." [Alzforum:KD, PMID:11723295, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:D439A" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810-1, Asp-439, CHEBI:46217" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-d439a
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037768
name: presenilin-2 sequence variant T430M (human)
def: "A presenilin-2 sequence variant (human) that has a Met residue at the position equivalent to Thr-430 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Thr-430, CHEBI:16044." [Alzforum:KD, PMID:12925374, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:T430M" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810-1, Thr-430, CHEBI:16044" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-t430m
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000036286
name: presenilin-2 sequence variant (human)
def: "A presenilin-2 (human) that has at least one amino acid residue that differs from the corresponding residue found in another presenilin-2 (human) when such a difference arises as the result of genetic differences, i.e., different alleles of presenilin-2 (human). Operationally, this means the sequence representation of the presenilin-2 (human) has at least one amino acid residue that differs from the corresponding residue found in the sequence represened by UniProtKB:P49810-1." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var+" EXACT PRO-short-label [PRO:DNx]
is_a: PR:P49810 ! presenilin-2 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045487
name: presenilin-2 sequence variant A377V (human)
def: "A presenilin-2 sequence variant (human) that has a Val residue at the position equivalent to Ala-377 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Ala-377, CHEBI:30015." [Alzforum:KD, PMID:25333068, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:A377V" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810-1, Ala-377, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-a377v
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045486
name: presenilin-2 sequence variant P334A (human)
def: "A presenilin-2 sequence variant (human) that has an Ala residue at the position equivalent to Pro-334 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Pro-334, CHEBI:46217." [Alzforum:KD, PMID:25333068, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:P334A" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810-1, Pro-334, CHEBI:46217" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-p334a
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045485
name: presenilin-2 sequence variant T301M (human)
def: "A presenilin-2 sequence variant (human) that has a Met residue at the position equivalent to Thr-301 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Thr-301, CHEBI:16044." [Alzforum:KD, PMID:15258222, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:T301M" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810-1, Thr-301, CHEBI:16044" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-t301m
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045484
name: presenilin-2 sequence variant A258T (human)
def: "A presenilin-2 sequence variant (human) that has a Thr residue at the position equivalent to Ala-258 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Ala-258, CHEBI:30013." [Alzforum:KD, PMID:25937274, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:A258T" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810-1, Ala-258, CHEBI:30013" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-a258t
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045483
name: presenilin-2 sequence variant L238F (human)
def: "A presenilin-2 sequence variant (human) that has a Phe residue at the position equivalent to Leu-238 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Leu-238, CHEBI:29997." [Alzforum:KD, PMID:25937274, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:L238F" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810-1, Leu-238, CHEBI:29997" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-l238f
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045482
name: presenilin-2 sequence variant A237V (human)
def: "A presenilin-2 sequence variant (human) that has a Val residue at the position equivalent to Ala-237 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Ala-237, CHEBI:30015." [Alzforum:KD, PMID:25104557, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:A237V" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810-1, Ala-237, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-a237v
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045481
name: presenilin-2 sequence variant I235F (human)
def: "A presenilin-2 sequence variant (human) that has a Phe residue at the position equivalent to Ile-235 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Ile-235, CHEBI:29997." [Alzforum:KD, PMID:25333068, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:I235F" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810-1, Ile-235, CHEBI:29997" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-i235f
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045480
name: presenilin-2 sequence variant H169N (human)
def: "A presenilin-2 sequence variant (human) that has an Asn residue at the position equivalent to His-169 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, His-169, CHEBI:50347." [Alzforum:KD, PMID:25323700, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:H169N" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810-1, His-169, CHEBI:50347" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-h169n
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000044563
name: presenilin-2 sequence variant T18M (human)
def: "A presenilin-2 sequence variant (human) that has a Met residue at the position equivalent to Thr-18 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Thr-18, CHEBI:16044." [Alzforum:KD, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:T18M" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810-1, Thr-18, CHEBI:16044" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-t18m
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000044562
name: presenilin-2 sequence variant P348L (human)
def: "A presenilin-2 sequence variant (human) that has a Leu residue at the position equivalent to Pro-348 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Pro-348, CHEBI:30006." [Alzforum:KD, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:P348L" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810-1, Pro-348, CHEBI:30006" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-p348l
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000044561
name: presenilin-2 sequence variant L238P (human)
def: "A presenilin-2 sequence variant (human) that has a Pro residue at the position equivalent to Leu-238 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Leu-238, CHEBI:50342." [Alzforum:KD, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:L238P" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810-1, Leu-238, CHEBI:50342" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-l238p
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000044560
name: presenilin-2 sequence variant G212V (human)
def: "A presenilin-2 sequence variant (human) that has a Val residue at the position equivalent to Gly-212 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Gly-212, CHEBI:30015." [Alzforum:KD, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:G212V" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810-1, Gly-212, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-g212v
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens