[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