PR:000037646 presenilin-1 sequence variant Q222R (human) hPSEN1/var:Q222R|UniProtKB:P49768-1, Gln-222, CHEBI:29952 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-q222r EXP NCBITaxon:9606 Alzforum:psen1-q222r 20180510 PRO:DAN