[Term]
id: PR:000025602
name: amyloid-beta precursor protein sequence variant E693del (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has a single-residue deletion at the position equivalent to Glu-693 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, 1-692, 694-770." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "Osaka APP" EXACT [Alzforum_mut:app-e693del-osaka]
synonym: "APP E693delta" EXACT [Alzforum_mut:app-e693del-osaka]
synonym: "APP deltaGlu693" EXACT [Alzforum_mut:app-e693del-osaka]
synonym: "hAPP/var:E693del" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P05067-1, 1-692, 694-770" NARROW PRO-proteoform-std [PRO:DAN]
xref: Alzforum_mut:app-e693del-osaka
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens