[Term]
id: PR:000037572
name: presenilin-1 sequence variant Y115C (human)
def: "A presenilin-1 sequence variant (human) that has a Cys residue at the position equivalent to Tyr-115 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Tyr-115, CHEBI:29950." [Alzforum:KD, PMID:9384602, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:Y115C" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Tyr-115, CHEBI:29950" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_006416
xref: Alzforum_mut:psen1-y115c
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens