[Term]
id: PR:000045415
name: amyloid-beta precursor protein sequence variant K496Q (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has a Gln residue at the position equivalent to Lys-496 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Lys-496, CHEBI:30011." [PRO:DAN, Alzforum:KD, PMID:24880964]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hAPP/var:K496Q" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P05067, Lys-496, CHEBI:30011" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P05067-1, Lys-496, CHEBI:30011" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-k496q
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens