PR:000045464 presenilin-1 sequence variant S230I (human) hPSEN1/var:S230I|UniProtKB:P49768-1, Ser-230, CHEBI:30009 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-s230i EXP NCBITaxon:9606 Alzforum:psen1-s230i 20180510 PRO:DAN