PR:000037761 presenilin-2 sequence variant Q228L (human) hPSEN2/var:Q228L|UniProtKB:P49810-1, Gln-228, CHEBI:30006 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen2-q228l EXP NCBITaxon:9606 Alzforum:psen2-q228l 20180510 PRO:DAN