[Term]
id: PR:000045410
name: amyloid-beta precursor protein sequence variant E246K (human)
def: "An amyloid-beta precursor protein sequence variant (human) that has a Lys residue at the position equivalent to Glu-246 of the amino acid sequence represented by UniProtKB:P05067-1. Example: UniProtKB:P05067-1, Glu-246, CHEBI:29967." [PRO:DAN, Alzforum:KD, PMID:25937274]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hAPP/var:E246K" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P05067, Glu-246, CHEBI:29967" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P05067-1, Glu-246, CHEBI:29967" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:app-e246k
is_a: PR:000025558 ! amyloid-beta precursor protein sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens