PR:000037693 presenilin-1 sequence variant L282V (human) hPSEN1/var:L282V|UniProtKB:P49768-1, Leu-282, CHEBI:30015 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l282v EXP NCBITaxon:9606 Alzforum:psen1-l282v 20180510 PRO:DAN