[Term]
id: PR:000025563
name: amyloid-beta precursor protein sequence variant E693K (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has a Lys 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:29967." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hAPP/var:E693K" EXACT PRO-short-label [PRO:DNx]
synonym: "Italian APP" EXACT [Alzforum_mut:app-e693k-italian]
synonym: "UniProtKB:P05067, Glu-693, CHEBI:29967" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P05067-1, Glu-693, CHEBI:29967" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_014216
xref: Alzforum_mut:app-e693k-italian
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens