PR:000037686 presenilin-1 sequence variant A275V (human) hPSEN1/var:A275V|UniProtKB:P49768-1, Ala-275, CHEBI:30015 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-a275v EXP NCBITaxon:9606 Alzforum:psen1-a275v 20180510 PRO:DAN