[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: "hAPP/var:I716V" EXACT PRO-short-label [PRO:DNx]
synonym: "Florida APP" EXACT [Alzforum_mut:app-i716v-florida]
synonym: "UniProtKB:P05067, Ile-716, CHEBI:30015" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P05067-1, Ile-716, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_000020
xref: Alzforum_mut:app-i716v-florida
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens