[Term]
id: PR:000037744
name: presenilin-2 sequence variant R62C (human)
def: "A presenilin-2 sequence variant (human) that has a Cys residue at the position equivalent to Arg-62 of the amino acid sequence represented by UniProtKB:P49810-1. Example: UniProtKB:P49810-1, Arg-62, CHEBI:29950." [PRO:DAN, Alzforum:KD, PMID:15130954, PMID:17914065, PMID:18608129]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN2/var:R62C" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49810, Arg-62, CHEBI:29950" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P49810-1, Arg-62, CHEBI:29950" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen2-r62c
is_a: PR:000036286 ! presenilin-2 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens