PR:000037577 presenilin-1 sequence variant P117R (human) hPSEN1/var:P117R|UniProtKB:P49768-1, Pro-117, CHEBI:29952 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-p117r EXP NCBITaxon:9606 Alzforum:psen1-p117r 20180510 PRO:DAN