[Term]
id: PR:000025569
name: amyloid-beta precursor protein sequence variant T714I (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has an Ile residue at the position equivalent to Thr-714 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Thr-714, CHEBI:30009." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "Austrian APP" EXACT [Alzforum_mut:app-t714i-austrian]
synonym: "hAPP/var:T714I" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:P05067-1, Thr-714, CHEBI:30009" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-t714i-austrian
xref: UniProtKB_VAR:VAR_014218
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens