PR:000037641 presenilin-1 sequence variant H214D (human) hPSEN1/var:H214D|UniProtKB:P49768-1, His-214, CHEBI:29958 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-h214d EXP NCBITaxon:9606 Alzforum:psen1-h214d 20180510 PRO:DAN