[Term]
id: PR:000037562
name: presenilin-1 sequence variant V94M (human)
def: "A presenilin-1 sequence variant (human) that has a Met residue at the position equivalent to Val-94 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Val-94, CHEBI:16044." [PRO:DAN, Alzforum:KD, PMID:11568920]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:V94M" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768, Val-94, CHEBI:16044" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P49768-1, Val-94, CHEBI:16044" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-v94m
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens