PR:000037666 presenilin-1 sequence variant L248P (human) hPSEN1/var:L248P|UniProtKB:P49768-1, Leu-248, CHEBI:50342 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l248p EXP NCBITaxon:9606 Alzforum:psen1-l248p 20180510 PRO:DAN