[Term]
id: PR:000037646
name: presenilin-1 sequence variant Q222R (human)
def: "A presenilin-1 sequence variant (human) that has an Arg residue at the position equivalent to Gln-222 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Gln-222, CHEBI:29952." [Alzforum:KD, PMID:11524469, PRO:DAN]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:Q222R" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768-1, Gln-222, CHEBI:29952" NARROW PRO-proteoform-std [PRO:DNx]
xref: UniProtKB_VAR:VAR_075269
xref: Alzforum_mut:psen1-q222r
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens