[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: "hAPP/var:V717F" EXACT PRO-short-label [PRO:DNx]
synonym: "Indiana APP" EXACT [Alzforum_mut:app-v717f-indiana]
synonym: "UniProtKB:P05067, Val-717, CHEBI:29997" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P05067-1, Val-717, CHEBI:29997" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_000023
xref: Alzforum_mut:app-v717f-indiana
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens