[Term]
id: PR:P05067-9
name: amyloid-beta precursor protein isoform L-APP752 (human)
def: "An amyloid-beta precursor protein isoform L-APP752 that is encoded in the genome of human." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hAPP/iso:L-APP752" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:P05067-9
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000025530 ! amyloid-beta precursor protein isoform L-APP752

[Term]
id: PR:000045424
name: amyloid-beta precursor protein sequence variant G709S (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has a Ser residue at the position equivalent to Gly-709 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Gly-709, CHEBI:29999." [Alzforum:KD, PMID:25604855, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hAPP/var:G709S" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P05067-1, Gly-709, CHEBI:29999" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-g709s
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045421
name: amyloid-beta precursor protein sequence variant P620L (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has a Leu residue at the position equivalent to Pro-620 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Pro-620, CHEBI:30006." [Alzforum:KD, PMID:24880964, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hAPP/var:P620L" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P05067-1, Pro-620, CHEBI:30006" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-p620l
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045420
name: amyloid-beta precursor protein sequence variant T600M (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has a Met residue at the position equivalent to Thr-600 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Thr-600, CHEBI:16044." [Alzforum:KD, PMID:25604855, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hAPP/var:T600M" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P05067-1, Thr-600, CHEBI:16044" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-t600m
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045409
name: amyloid-beta precursor protein sequence variant D243N (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has an Asn residue at the position equivalent to Asp-243 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Asp-243, CHEBI:50347." [Alzforum:KD, PMID:26242991, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hAPP/var:D243N" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P05067-1, Asp-243, CHEBI:50347" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-d243n
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045408
name: amyloid-beta precursor protein sequence variant A235V (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has a Val residue at the position equivalent to Ala-235 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Ala-235, CHEBI:30015." [Alzforum:KD, PMID:26242991, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hAPP/var:A235V" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P05067-1, Ala-235, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-a235v
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045407
name: amyloid-beta precursor protein sequence variant A201V (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has a Val residue at the position equivalent to Ala-201 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Ala-201, CHEBI:30015." [Alzforum:KD, PMID:25104557, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hAPP/var:A201V" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P05067-1, Ala-201, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-a201v
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:P05067-4
name: amyloid-beta precursor protein isoform APP695 (human)
def: "An amyloid-beta precursor protein isoform APP695 that is encoded in the genome of human." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hAPP/iso:APP695" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:P05067-4
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000025525 ! amyloid-beta precursor protein isoform APP695

[Term]
id: PR:000025558
name: amyloid-beta precursor protein sequence variant (human)
def: "An amyloid-beta precursor protein (human) that has at least one amino acid residue that differs from the corresponding residue found in another amyloid-beta precursor protein (human) when such a difference arises as the result of genetic differences, i.e., different alleles of amyloid-beta precursor protein (human). Operationally, this means the sequence representation of the amyloid-beta precursor protein (human) has at least one amino acid residue that differs from the corresponding residue found of the amino acid sequence represented by UniProtKB:P05067-1." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hAPP/var+" EXACT PRO-short-label [PRO:DNx]
is_a: PR:P05067 ! amyloid-beta precursor protein (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037518
name: amyloid-beta precursor protein sequence variant A673V (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has a Val residue at the position equivalent to Ala-673 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Ala-673, CHEBI:30015." [Alzforum:KD, PMID:19286555, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hAPP/var:A673V" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P05067-1, Ala-673, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-a673v
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000037519
name: amyloid-beta precursor protein sequence variant D678H (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has a His residue at the position equivalent to Asp-678 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Asp-678, CHEBI:29979." [Alzforum:KD, PMID:22558227, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "Taiwanese APP" EXACT [Alzforum_mut:app-d678h-taiwanese]
synonym: "hAPP/var:D678H" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P05067-1, Asp-678, CHEBI:29979" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-d678h-taiwanese
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:P05067-1
name: amyloid-beta precursor protein isoform APP770 (human)
def: "An amyloid-beta precursor protein isoform APP770 that is encoded in the genome of human." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hAPP/iso:APP770" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:P05067-1
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000025522 ! amyloid-beta precursor protein isoform APP770

[Term]
id: PR:P05067-6
name: amyloid-beta precursor protein isoform APP714 (human)
def: "An amyloid-beta precursor protein isoform APP714 that is encoded in the genome of human." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hAPP/iso:APP714" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:P05067-6
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000025527 ! amyloid-beta precursor protein isoform APP714

[Term]
id: PR:000028706
name: amyloid-beta precursor protein sequence variant E501K (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has a Lys residue at the position equivalent to Glu-501 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Glu-501, CHEBI:29967." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hAPP/var:E501K" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P05067-1, Glu-501, CHEBI:29967" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_022315
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045419
name: amyloid-beta precursor protein sequence variant E599K (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has a Lys residue at the position equivalent to Glu-599 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Glu-599, CHEBI:29967." [Alzforum:KD, PMID:25104557, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hAPP/var:E599K" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P05067-1, Glu-599, CHEBI:29967" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-e599k
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:P05067-2
name: amyloid-beta precursor protein isoform APP305 (human)
def: "An amyloid-beta precursor protein isoform APP305 that is encoded in the genome of human." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hAPP/iso:APP305" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:P05067-2
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000025523 ! amyloid-beta precursor protein isoform APP305

[Term]
id: PR:000046368
name: amyloid-beta precursor protein, signal peptide removed form (human)
def: "An amyloid-beta precursor protein (human) that has had the signal peptide removed. UniProtKB:P05067, 18-770." [PRO:DNx, Reactome:R-HSA-139835, Reactome:R-HSA-49335, Reactome:R-HSA-5229077, Reactome:R-HSA-5229136]
comment: Category=organism-modification.
synonym: "hAPP/SigPep-" EXACT PRO-short-label [PRO:DNx]
synonym: "PRO_0000000088" EXACT PRO-proteoform-ftid [PRO:DNx]
synonym: "UniProtKB:P05067, 18-770" EXACT PRO-proteoform-std [PRO:DNx]
xref: Reactome:R-HSA-139835 "PR:000046368 located_in GO:0031093"
xref: Reactome:R-HSA-49335 "PR:000046368 located_in GO:0005576"
xref: Reactome:R-HSA-5229077 "PR:000046368 located_in GO:0031904"
xref: Reactome:R-HSA-5229136 "PR:000046368 located_in GO:0032588"
xref: Reactome:R-HSA-8871509 "PR:000046368 located_in GO:0005796"
xref: Reactome:R-HSA-8956696 "PR:000046368 located_in GO:0005788"
xref: Reactome:R-HSA-9010038 "PR:000046368 located_in GO:0005886"
intersection_of: PR:P05067 ! amyloid-beta precursor protein (human)
intersection_of: lacks_part SO:0000418 ! signal_peptide
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045423
name: amyloid-beta precursor protein sequence variant T663M (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has a Met residue at the position equivalent to Thr-663 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Thr-663, CHEBI:16044." [Alzforum:KD, PMID:25604855, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hAPP/var:T663M" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P05067-1, Thr-663, CHEBI:16044" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-t663m
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:P05067-3
name: amyloid-beta precursor protein isoform L-APP677 (human)
def: "An amyloid-beta precursor protein isoform L-APP677 that is encoded in the genome of human." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hAPP/iso:L-APP677" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:P05067-3
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000025524 ! amyloid-beta precursor protein isoform L-APP677

[Term]
id: PR:000045422
name: amyloid-beta precursor protein sequence variant P620A (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has an Ala residue at the position equivalent to Pro-620 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Pro-620, CHEBI:46217." [Alzforum:KD, PMID:26242991, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hAPP/var:P620A" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P05067-1, Pro-620, CHEBI:46217" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-p620a
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:P05067-7
name: amyloid-beta precursor protein isoform L-APP733 (human)
def: "An amyloid-beta precursor protein isoform L-APP733 that is encoded in the genome of human." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hAPP/iso:L-APP733" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:P05067-7
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000025528 ! amyloid-beta precursor protein isoform L-APP733

[Term]
id: PR:000050064
name: beta-amyloid protein 40 (human)
def: "A beta-amyloid protein 40 in human. Example: UniProtKB:P05067-1, 672-711." [PRO:DAN]
comment: Category=organism-modification. Requested by=Alzforum.
synonym: "hAbeta(1-40)" EXACT PRO-short-label [PRO:DAN]
synonym: "APP-40 (human)" EXACT []
synonym: "PRO_0000000093" NARROW PRO-proteoform-ftid [PRO:DAN]
synonym: "Abeta40 (human)" EXACT []
synonym: "beta-APP40 (human)" EXACT []
synonym: "UniProtKB:P05067-1, 672-711" NARROW PRO-proteoform-std [PRO:DAN]
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000025584 ! beta-amyloid protein 40

[Term]
id: PR:P05067
name: amyloid-beta precursor protein (human)
def: "An amyloid-beta precursor protein that is encoded in the genome of human." [PRO:DAN]
comment: Category=organism-gene. Requested by=Alzforum.
synonym: "A4" RELATED Gene-based [UniProtKB:P05067]
synonym: "AD1" RELATED Gene-based [UniProtKB:P05067]
synonym: "APP" RELATED Gene-based [UniProtKB:P05067]
synonym: "hAPP" EXACT PRO-short-label [PRO:DNx]
synonym: "ABPP (human)" EXACT [UniProtKB:P05067]
synonym: "APPI (human)" EXACT [UniProtKB:P05067]
synonym: "CVAP (human)" EXACT [UniProtKB:P05067]
synonym: "PN-II (human)" EXACT [UniProtKB:P05067]
synonym: "PreA4 (human)" EXACT [UniProtKB:P05067]
synonym: "protease nexin-II (human)" EXACT [UniProtKB:P05067]
synonym: "amyloid-beta A4 protein (human)" EXACT [UniProtKB:P05067]
synonym: "amyloid precursor protein (human)" EXACT [UniProtKB:P05067]
synonym: "Alzheimer disease amyloid protein (human)" EXACT [UniProtKB:P05067]
synonym: "cerebral vascular amyloid peptide (human)" EXACT [UniProtKB:P05067]
synonym: "amyloid-beta (A4) precursor protein (human)" EXACT [UniProtKB:P05067]
synonym: "Alzheimer disease amyloid A4 protein homolog (human)" EXACT [UniProtKB:P05067]
xref: UniProtKB:P05067
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000004168 ! amyloid-beta precursor protein
relationship: has_gene_template HGNC:620 ! APP (human)

[Term]
id: PR:000025602
name: amyloid-beta precursor protein sequence variant E693del (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has a single-residue deletion at the position equivalent to Glu-693 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, 1-692, 694-770." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "Osaka APP" EXACT [Alzforum_mut:app-e693del-osaka]
synonym: "APP E693delta" EXACT [Alzforum_mut:app-e693del-osaka]
synonym: "APP deltaGlu693" EXACT [Alzforum_mut:app-e693del-osaka]
synonym: "hAPP/var:E693del" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P05067-1, 1-692, 694-770" NARROW PRO-proteoform-std [PRO:DAN]
xref: Alzforum_mut:app-e693del-osaka
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000025568
name: amyloid-beta precursor protein sequence variant T714A (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has an Ala residue at the position equivalent to Thr-714 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Thr-714, CHEBI:46217." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "Iranian APP" EXACT [Alzforum_mut:app-t714a-iranian]
synonym: "hAPP/var:T714A" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P05067-1, Thr-714, CHEBI:46217" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-t714a-iranian
xref: UniProtKB_VAR:VAR_032277
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000025569
name: amyloid-beta precursor protein sequence variant T714I (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has an Ile residue at the position equivalent to Thr-714 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Thr-714, CHEBI:30009." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "Austrian APP" EXACT [Alzforum_mut:app-t714i-austrian]
synonym: "hAPP/var:T714I" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P05067-1, Thr-714, CHEBI:30009" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-t714i-austrian
xref: UniProtKB_VAR:VAR_014218
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000025566
name: amyloid-beta precursor protein sequence variant L705V (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has a Val residue at the position equivalent to Leu-705 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Leu-705, CHEBI:30015." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hAPP/var:L705V" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P05067-1, Leu-705, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-l705v
xref: UniProtKB_VAR:VAR_032276
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000025567
name: amyloid-beta precursor protein sequence variant A713T (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has a Thr residue at the position equivalent to Ala-713 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Ala-713, CHEBI:30013." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hAPP/var:A713T" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P05067-1, Ala-713, CHEBI:30013" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-a713t
xref: UniProtKB_VAR:VAR_000019
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000025564
name: amyloid-beta precursor protein sequence variant E693Q (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has a Gln residue at the position equivalent to Glu-693 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Glu-693, CHEBI:30011." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "Dutch APP" EXACT [Alzforum_mut:app-e693q-dutch]
synonym: "hAPP/var:E693Q" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P05067-1, Glu-693, CHEBI:30011" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-e693q-dutch
xref: UniProtKB_VAR:VAR_000017
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000025565
name: amyloid-beta precursor protein sequence variant D694N (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has an Asn residue at the position equivalent to Asp-694 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Asp-694, CHEBI:50347." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "Iowa APP" EXACT [Alzforum_mut:app-d694n-iowa]
synonym: "hAPP/var:D694N" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P05067-1, Asp-694, CHEBI:50347" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-d694n-iowa
xref: UniProtKB_VAR:VAR_014217
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000025562
name: amyloid-beta precursor protein sequence variant E693G (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has a Gly residue at the position equivalent to Glu-693 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Glu-693, CHEBI:29947." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "Arctic APP" EXACT [Alzforum_mut:app-e693g-arctic]
synonym: "hAPP/var:E693G" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P05067-1, Glu-693, CHEBI:29947" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-e693g-arctic
xref: UniProtKB_VAR:VAR_014215
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000025563
name: amyloid-beta precursor protein sequence variant E693K (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has a Lys residue at the position equivalent to Glu-693 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Glu-693, CHEBI:29967." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "Italian APP" EXACT [Alzforum_mut:app-e693k-italian]
synonym: "hAPP/var:E693K" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P05067-1, Glu-693, CHEBI:29967" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-e693k-italian
xref: UniProtKB_VAR:VAR_014216
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000025560
name: amyloid-beta precursor protein sequence variant D678N (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has an Asn residue at the position equivalent to Asp-678 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Asp-678, CHEBI:50347." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "Tottori APP" EXACT [Alzforum_mut:app-d678n-tottori]
synonym: "hAPP/var:D678N" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P05067-1, Asp-678, CHEBI:50347" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-d678n-tottori
xref: UniProtKB_VAR:VAR_044424
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000025561
name: amyloid-beta precursor protein sequence variant A692G (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has a Gly residue at the position equivalent to Ala-692 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Ala-692, CHEBI:29947." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "Flemish APP" EXACT [Alzforum_mut:app-a692g-flemish]
synonym: "hAPP/var:A692G" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P05067-1, Ala-692, CHEBI:29947" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-a692g-flemish
xref: UniProtKB_VAR:VAR_000016
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045417
name: amyloid-beta precursor protein sequence variant Y538H (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has a His residue at the position equivalent to Tyr-538 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Tyr-538, CHEBI:29979." [Alzforum:KD, PMID:25104557, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hAPP/var:Y538H" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P05067-1, Tyr-538, CHEBI:29979" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-y538h
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045418
name: amyloid-beta precursor protein sequence variant V562I (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has an Ile residue at the position equivalent to Val-562 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Val-562, CHEBI:30009." [Alzforum:KD, PMID:25104557, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hAPP/var:V562I" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P05067-1, Val-562, CHEBI:30009" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-v562i
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000025601
name: amyloid-beta precursor protein sequence variant KM670/671NL (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has Asn and Leu residues at positions equivalent to Lys-670 and Met-671 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Lys-670, CHEBI:50347|Met-671, CHEBI:30006." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "Swedish APP" EXACT [Alzforum_mut:app-km670671nl-swedish]
synonym: "hAPP/var:KM670/671NL" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P05067-1, Lys-670, CHEBI:50347|Met-671, CHEBI:30006" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-km670671nl-swedish
xref: UniProtKB_VAR:VAR_000015
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000036991
name: amyloid-beta precursor protein sequence variant M722K (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has a Lys residue at the position equivalent to Met-722 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Met-722, CHEBI:29967." [Alzforum:KD, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hAPP/var:M722K" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P05067-1, Met-722, CHEBI:29967" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-m722k
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000036990
name: amyloid-beta precursor protein sequence variant I716M (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has a Met residue at the position equivalent to Ile-716 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Ile-716, CHEBI:16044." [Alzforum:KD, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hAPP/var:I716M" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P05067-1, Ile-716, CHEBI:16044" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-i716m
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045414
name: amyloid-beta precursor protein sequence variant A479S (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has a Ser residue at the position equivalent to Ala-479 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Ala-479, CHEBI:29999." [Alzforum:KD, PMID:25937274, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hAPP/var:A479S" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P05067-1, Ala-479, CHEBI:29999" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-a479s
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045415
name: amyloid-beta precursor protein sequence variant K496Q (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has a Gln residue at the position equivalent to Lys-496 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Lys-496, CHEBI:30011." [Alzforum:KD, PMID:24880964, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hAPP/var:K496Q" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P05067-1, Lys-496, CHEBI:30011" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-k496q
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045416
name: amyloid-beta precursor protein sequence variant A500T (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has a Thr residue at the position equivalent to Ala-500 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Ala-500, CHEBI:30013." [Alzforum:KD, PMID:25604855, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hAPP/var:A500T" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P05067-1, Ala-500, CHEBI:30013" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-a500t
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000025600
name: amyloid-beta precursor protein sequence variant H733P (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has a Pro residue at the position equivalent to His-733 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, His-733, CHEBI:50342." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hAPP/var:H733P" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P05067-1, His-733, CHEBI:50342" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-h733p-0
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045410
name: amyloid-beta precursor protein sequence variant E246K (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has a Lys residue at the position equivalent to Glu-246 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Glu-246, CHEBI:29967." [Alzforum:KD, PMID:25937274, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hAPP/var:E246K" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P05067-1, Glu-246, CHEBI:29967" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-e246k
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045411
name: amyloid-beta precursor protein sequence variant E296K (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has a Lys residue at the position equivalent to Glu-296 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Glu-296, CHEBI:29967." [Alzforum:KD, PMID:26242991, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hAPP/var:E296K" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P05067-1, Glu-296, CHEBI:29967" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-e296k
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045412
name: amyloid-beta precursor protein sequence variant P299L (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has a Leu residue at the position equivalent to Pro-299 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Pro-299, CHEBI:30006." [Alzforum:KD, PMID:26242991, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hAPP/var:P299L" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P05067-1, Pro-299, CHEBI:30006" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-p299l
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000045413
name: amyloid-beta precursor protein sequence variant R468H (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has a His residue at the position equivalent to Arg-468 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Arg-468, CHEBI:29979." [Alzforum:KD, PMID:25604855, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hAPP/var:R468H" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P05067-1, Arg-468, CHEBI:29979" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-r468h
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000050063
name: beta-amyloid protein 42 (human)
def: "A beta-amyloid protein 42 in human. Example: UniProtKB:P05067-1, 672-713." [PRO:DAN]
comment: Category=organism-modification. Requested by=Alzforum.
synonym: "hAbeta(1-42)" EXACT PRO-short-label [PRO:DAN]
synonym: "APP-42 (human)" EXACT []
synonym: "PRO_0000000092" NARROW PRO-proteoform-ftid [PRO:DAN]
synonym: "Abeta42 (human)" EXACT []
synonym: "beta-APP42 (human)" EXACT []
synonym: "UniProtKB:P05067-1, 672-713" NARROW PRO-proteoform-std [PRO:DAN]
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000025583 ! beta-amyloid protein 42

[Term]
id: PR:P05067-10
name: amyloid-beta precursor protein isoform APP639 (human)
def: "An amyloid-beta precursor protein isoform APP639 that is encoded in the genome of human." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hAPP/iso:APP639" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:P05067-10
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000025531 ! amyloid-beta precursor protein isoform APP639

[Term]
id: PR:P05067-11
name: amyloid-beta precursor protein isoform h11 (human)
def: "An amyloid-beta precursor protein (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:P05067-11." [PRO:DNx, UniProtKB:P05067]
comment: Category=organism-sequence.
synonym: "hAPP/iso:h11" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:P05067-11
is_a: PR:P05067 ! amyloid-beta precursor protein (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000025598
name: amyloid-beta precursor protein sequence variant K724N (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has an Asn residue at the position equivalent to Lys-724 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Lys-724, CHEBI:50347." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "Belgian APP" EXACT [Alzforum_mut:app-k724n-belgian]
synonym: "hAPP/var:K724N" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P05067-1, Lys-724, CHEBI:50347" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-k724n-belgian
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:P05067-8
name: amyloid-beta precursor protein isoform APP751 (human)
def: "An amyloid-beta precursor protein isoform APP751 that is encoded in the genome of human." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hAPP/iso:APP751" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:P05067-8
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000025529 ! amyloid-beta precursor protein isoform APP751

[Term]
id: PR:000004168
name: amyloid-beta precursor protein
def: "A protein that is a translation product of the human APP gene or a 1:1 ortholog thereof." [PRO:DNx]
comment: Category=gene. Requested by=Alzforum.
synonym: "A4" RELATED Gene-based []
synonym: "AG" EXACT []
synonym: "AD1" RELATED Gene-based []
synonym: "APP" EXACT PRO-short-label [PRO:DNx]
synonym: "ABPP" EXACT []
synonym: "APPI" EXACT []
synonym: "CVAP" EXACT []
synonym: "PN-II" EXACT []
synonym: "PreA4" EXACT []
synonym: "protease nexin-II" EXACT []
synonym: "amyloid beta A4 protein" EXACT []
synonym: "amyloid-beta A4 protein" EXACT []
synonym: "amyloid precursor protein" EXACT []
synonym: "amyloidogenic glycoprotein" EXACT []
synonym: "alzheimer disease amyloid protein" EXACT []
synonym: "cerebral vascular amyloid peptide" EXACT []
synonym: "amyloid-beta (A4) precursor protein" EXACT []
synonym: "alzheimer disease amyloid A4 protein homolog" EXACT []
is_a: PR:000000001 ! protein

[Term]
id: PR:P05067-5
name: amyloid-beta precursor protein isoform L-APP696 (human)
def: "An amyloid-beta precursor protein isoform L-APP696 that is encoded in the genome of human." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hAPP/iso:L-APP696" EXACT PRO-short-label [PRO:DNx]
xref: UniProtKB:P05067-5
intersection_of: only_in_taxon NCBITaxon:9606 ! Homo sapiens
intersection_of: PR:000025526 ! amyloid-beta precursor protein isoform L-APP696

[Term]
id: PR:000037520
name: amyloid-beta precursor protein sequence variant K687N (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has an Asn residue at the position equivalent to Lys-687 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Lys-687, CHEBI:50347." [Alzforum:KD, PMID:22514144, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hAPP/var:K687N" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P05067-1, Lys-687, CHEBI:50347" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-k687n
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000025597
name: amyloid-beta precursor protein sequence variant T719P (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has a Pro residue at the position equivalent to Thr-719 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Thr-719, CHEBI:50342." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hAPP/var:T719P" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P05067-1, Thr-719, CHEBI:50342" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-t719p
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000025596
name: amyloid-beta precursor protein sequence variant I716T (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has a Thr residue at the position equivalent to Ile-716 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Ile-716, CHEBI:30013." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hAPP/var:I716T" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P05067-1, Ile-716, CHEBI:30013" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-i716t
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000025595
name: amyloid-beta precursor protein sequence variant I716F (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has a Phe residue at the position equivalent to Ile-716 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Ile-716, CHEBI:29997." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "Iberian APP" EXACT [PRO:DAN, Alzforum_mut:app-i716f-iberian]
synonym: "hAPP/var:I716F" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P05067-1, Ile-716, CHEBI:29997" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-i716f-iberian
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000025594
name: amyloid-beta precursor protein sequence variant V715A (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has an Ala residue at the position equivalent to Val-715 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Val-715, CHEBI:46217." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "German APP" EXACT [Alzforum_mut:app-v715a-german]
synonym: "hAPP/var:V715A" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P05067-1, Val-715, CHEBI:46217" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-v715a-german
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000025593
name: amyloid-beta precursor protein sequence variant A713V (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has a Val residue at the position equivalent to Ala-713 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Ala-713, CHEBI:30015." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hAPP/var:A713V" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P05067-1, Ala-713, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-a713v
xref: UniProtKB_VAR:VAR_000018
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000025592
name: amyloid-beta precursor protein sequence variant H677R (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has an Arg residue at the position equivalent to His-677 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, His-677, CHEBI:29952." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "English APP" EXACT [Alzforum_mut:app-h677r-english]
synonym: "hAPP/var:H677R" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P05067-1, His-677, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-h677r-english
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000025591
name: amyloid-beta precursor protein sequence variant A673T (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has a Thr residue at the position equivalent to Ala-673 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Ala-673, CHEBI:30013." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "Icelandic APP" EXACT [PRO:DAN, Alzforum_mut:app-a673t-icelandic]
synonym: "hAPP/var:A673T" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P05067-1, Ala-673, CHEBI:30013" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-a673t-icelandic
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000025590
name: amyloid-beta precursor protein sequence variant E665D (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has an Asp residue at the position equivalent to Glu-665 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Glu-665, CHEBI:29958." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hAPP/var:E665D" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P05067-1, Glu-665, CHEBI:29958" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-e665d
xref: UniProtKB_VAR:VAR_010107
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000025571
name: amyloid-beta precursor protein sequence variant I716V (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has a Val residue at the position equivalent to Ile-716 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Ile-716, CHEBI:30015." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "Florida APP" EXACT [Alzforum_mut:app-i716v-florida]
synonym: "hAPP/var:I716V" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P05067-1, Ile-716, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-i716v-florida
xref: UniProtKB_VAR:VAR_000020
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000025570
name: amyloid-beta precursor protein sequence variant V715M (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has a Met residue at the position equivalent to Val-715 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Val-715, CHEBI:16044." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "French APP" EXACT [Alzforum_mut:app-v715m-french]
synonym: "hAPP/var:V715M" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P05067-1, Val-715, CHEBI:16044" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-v715m-french
xref: UniProtKB_VAR:VAR_010108
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000025573
name: amyloid-beta precursor protein sequence variant V717G (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has a Gly residue at the position equivalent to Val-717 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Val-717, CHEBI:29947." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hAPP/var:V717G" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P05067-1, Val-717, CHEBI:29947" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-v717g
xref: UniProtKB_VAR:VAR_000022
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000025572
name: amyloid-beta precursor protein sequence variant V717F (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has a Phe residue at the position equivalent to Val-717 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Val-717, CHEBI:29997." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "Indiana APP" EXACT [Alzforum_mut:app-v717f-indiana]
synonym: "hAPP/var:V717F" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P05067-1, Val-717, CHEBI:29997" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-v717f-indiana
xref: UniProtKB_VAR:VAR_000023
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000025575
name: amyloid-beta precursor protein sequence variant V717L (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has a Leu residue at the position equivalent to Val-717 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Val-717, CHEBI:30006." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hAPP/var:V717L" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P05067-1, Val-717, CHEBI:30006" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-v717l
xref: UniProtKB_VAR:VAR_014219
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000025574
name: amyloid-beta precursor protein sequence variant V717I (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has an Ile residue at the position equivalent to Val-717 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Val-717, CHEBI:30009." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "London APP" EXACT [Alzforum_mut:app-v717i-london]
synonym: "hAPP/var:V717I" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P05067-1, Val-717, CHEBI:30009" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-v717i-london
xref: UniProtKB_VAR:VAR_000021
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000025599
name: amyloid-beta precursor protein sequence variant E682K (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has a Lys residue at the position equivalent to Glu-682 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Glu-682, CHEBI:29967." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "Leuven APP" EXACT [Alzforum_mut:app-e682k-leuven]
synonym: "hAPP/var:E682K" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P05067-1, Glu-682, CHEBI:29967" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-e682k-leuven
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens

[Term]
id: PR:000025576
name: amyloid-beta precursor protein sequence variant L723P (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has a Pro residue at the position equivalent to Leu-723 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Leu-723, CHEBI:50342." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "Australian APP" EXACT [Alzforum_mut:app-l723p-australian]
synonym: "hAPP/var:L723P" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P05067-1, Leu-723, CHEBI:50342" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-l723p-australian
xref: UniProtKB_VAR:VAR_010109
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens