[Term]
id: PR:000037764
name: presenilin-2 sequence variant M239I (human)
def: "A presenilin-2 sequence variant (human) that has an Ile residue at the position equivalent to Met-239 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Met-239, CHEBI:30009." [Alzforum:KD, PMID:10822446, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:M239I" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810-1, Met-239, CHEBI:30009" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_009215
xref: Alzforum_mut:psen2-m239i
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens