PR:000045463 presenilin-1 sequence variant S230R (human) hPSEN1/var:S230R|UniProtKB:P49768-1, Ser-230, CHEBI:29952 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-s230r EXP NCBITaxon:9606 Alzforum:psen1-s230r 20180510 PRO:DAN