PR:000037699 presenilin-1 sequence variant L286V (human) hPSEN1/var:L286V|UniProtKB:P49768-1, Leu-286, CHEBI:30015 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l286v EXP NCBITaxon:9606 Alzforum:psen1-l286v 20180510 PRO:DAN