[Term]
id: PR:000037680
name: presenilin-1 sequence variant R269H (human)
def: "A presenilin-1 sequence variant (human) that has a His residue at the position equivalent to Arg-269 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Arg-269, CHEBI:29979." [Alzforum:KD, PMID:9189043, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:R269H" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Arg-269, CHEBI:29979" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006448
xref: Alzforum_mut:psen1-r269h
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens