[Term]
id: PR:000025562
name: amyloid-beta precursor protein sequence variant E693G (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has a Gly 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:29947." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hAPP/var:E693G" EXACT PRO-short-label [PRO:DNx]
synonym: "Arctic APP" EXACT [Alzforum_mut:app-e693g-arctic]
synonym: "UniProtKB:P05067, Glu-693, CHEBI:29947" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P05067-1, Glu-693, CHEBI:29947" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_014215
xref: Alzforum_mut:app-e693g-arctic
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens