PR:000037695 presenilin-1 sequence variant L282R (human) hPSEN1/var:L282R|UniProtKB:P49768-1, Leu-282, CHEBI:29952 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l282r EXP NCBITaxon:9606 Alzforum:psen1-l282r 20180510 PRO:DAN