PR:000037687 presenilin-1 sequence variant R278I (human) hPSEN1/var:R278I|UniProtKB:P49768-1, Arg-278, CHEBI:30009 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-r278i EXP NCBITaxon:9606 Alzforum:psen1-r278i 20180510 PRO:DAN