[Term]
id: PR:000045470
name: presenilin-1 sequence variant E280K (human)
def: "A presenilin-1 sequence variant (human) that has a Lys residue at the position equivalent to Glu-280 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Glu-280, CHEBI:29967." [Alzforum:KD, PMID:26396515, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:E280K" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Glu-280, CHEBI:29967" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-e280k
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens