[Term]
id: PR:000036286
name: presenilin-2 sequence variant (human)
def: "A presenilin-2 (human) that has at least one amino acid residue that differs from the corresponding residue found in another presenilin-2 (human) when such a difference arises as the result of genetic differences, i.e., different alleles of presenilin-2 (human). Operationally, this means the sequence representation of the presenilin-2 (human) has at least one amino acid residue that differs from the corresponding residue found in the sequence represened by UniProtKB:P49810-1." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var+" EXACT PRO-short-label [PRO:DNx]
is_a: PR:P49810 ! presenilin-2 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens