[Term]
id: PR:000037691
name: presenilin-1 sequence variant E280A (human)
def: "A presenilin-1 sequence variant (human) that has an Ala 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:46217." [PRO:DAN, Alzforum:KD, PMID:7550356, PMID:9052708]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:E280A" EXACT PRO-short-label [PRO:DAN]
synonym: "Paisa PSEN1" EXACT [Alzforum_mut:psen1-e280a-paisa]
synonym: "UniProtKB:P49768, Glu-280, CHEBI:46217" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P49768-1, Glu-280, CHEBI:46217" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006450
xref: Alzforum_mut:psen1-e280a-paisa
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens