[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: "hAPP/var:A692G" EXACT PRO-short-label [PRO:DNx]
synonym: "Flemish APP" EXACT [Alzforum_mut:app-a692g-flemish]
synonym: "UniProtKB:P05067, Ala-692, CHEBI:29947" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P05067-1, Ala-692, CHEBI:29947" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_000016
xref: Alzforum_mut:app-a692g-flemish
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens