PR:000037649 presenilin-1 sequence variant L226R (human) hPSEN1/var:L226R|UniProtKB:P49768-1, Leu-226, CHEBI:29952 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l226r EXP NCBITaxon:9606 Alzforum:psen1-l226r 20180510 PRO:DAN