PR:000037680 presenilin-1 sequence variant R269H (human) hPSEN1/var:R269H|UniProtKB:P49768-1, Arg-269, CHEBI:29979 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-r269h EXP NCBITaxon:9606 Alzforum:psen1-r269h 20180510 PRO:DAN