[Term]
id: PR:000025560
name: amyloid-beta precursor protein sequence variant D678N (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has an Asn residue at the position equivalent to Asp-678 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Asp-678, CHEBI:50347." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "Tottori APP" EXACT [Alzforum_mut:app-d678n-tottori]
synonym: "hAPP/var:D678N" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P05067-1, Asp-678, CHEBI:50347" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_044424
xref: Alzforum_mut:app-d678n-tottori
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens