PR:000037694 presenilin-1 sequence variant L282F (human) hPSEN1/var:L282F|UniProtKB:P49768-1, Leu-282, CHEBI:29997 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l282f EXP NCBITaxon:9606 Alzforum:psen1-l282f 20180510 PRO:DAN