PR:000037759 presenilin-2 sequence variant S175C (human) hPSEN2/var:S175C|UniProtKB:P49810-1, Ser-175, CHEBI:29950 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen2-s175c EXP NCBITaxon:9606 Alzforum:psen2-s175c 20180510 PRO:DAN