[Term]
id: PR:000025564
name: amyloid-beta precursor protein sequence variant E693Q (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has a Gln residue at the position equivalent to Glu-693 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Glu-693, CHEBI:30011." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hAPP/var:E693Q" EXACT PRO-short-label [PRO:DNx]
synonym: "Dutch APP" EXACT [Alzforum_mut:app-e693q-dutch]
synonym: "UniProtKB:P05067, Glu-693, CHEBI:30011" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P05067-1, Glu-693, CHEBI:30011" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_000017
xref: Alzforum_mut:app-e693q-dutch
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens