PR:000037648 presenilin-1 sequence variant Q223R (human) hPSEN1/var:Q223R|UniProtKB:P49768-1, Gln-223, CHEBI:29952 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-q223r EXP NCBITaxon:9606 Alzforum:psen1-q223r 20180510 PRO:DAN