PR:000037647 presenilin-1 sequence variant Q222H (human) hPSEN1/var:Q222H|UniProtKB:P49768-1, Gln-222, CHEBI:29979 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-q222h EXP NCBITaxon:9606 Alzforum:psen1-q222h 20180510 PRO:DAN