[Term]
id: PR:000037519
name: amyloid-beta precursor protein sequence variant D678H (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has a His 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:29979." [Alzforum:KD, PMID:22558227, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "Taiwanese APP" EXACT [Alzforum_mut:app-d678h-taiwanese]
synonym: "hAPP/var:D678H" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P05067-1, Asp-678, CHEBI:29979" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-d678h-taiwanese
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens