PR:000037727 presenilin-1 sequence variant L424R (human) hPSEN1/var:L424R|UniProtKB:P49768-1, Leu-424, CHEBI:29952 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l424r EXP NCBITaxon:9606 Alzforum:psen1-l424r 20180510 PRO:DAN