[Term]
id: PR:000036285
name: presenilin-1 sequence variant (human)
def: "A presenilin-1 (human) that has at least one amino acid residue that differs from the corresponding residue found in another presenilin-1 (human) when such a difference arises as the result of genetic differences, i.e., different alleles of presenilin-1 (human). Operationally, this means the sequence representation of the presenilin-1 (human) has at least one amino acid residue that differs from the corresponding residue found in the sequence represented by UniProtKB:P49768-1." [PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var+" EXACT PRO-short-label [PRO:DNx]
is_a: PR:P49768 ! presenilin-1 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens