PR:000037690 presenilin-1 sequence variant R278S (human) hPSEN1/var:R278S|UniProtKB:P49768-1, Arg-278, CHEBI:29999 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-r278s EXP NCBITaxon:9606 Alzforum:psen1-r278s 20180510 PRO:DAN