[Term]
id: PR:000037637
name: presenilin-1 sequence variant S212Y (human)
def: "A presenilin-1 sequence variant (human) that has a Tyr residue at the position equivalent to Ser-212 of the amino acid sequence represented by UniProtKB:P49768-1. Example: UniProtKB:P49768-1, Ser-212, CHEBI:46858." [PRO:DAN, Alzforum:KD, PMID:21094210]
comment: Category=organism-sequence. Requested by=Alzforum.
synonym: "hPSEN1/var:S212Y" EXACT PRO-short-label [PRO:DAN]
synonym: "UniProtKB:P49768, Ser-212, CHEBI:46858" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:P49768-1, Ser-212, CHEBI:46858" NARROW PRO-proteoform-std [PRO:DNx]
xref: Alzforum_mut:psen1-s212y
is_a: PR:000036285 ! presenilin-1 sequence variant (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens