[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: UniProtKB_VAR:VAR_014219
xref: Alzforum_mut:app-v717l
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens