PR:000037667 presenilin-1 sequence variant L250S (human) hPSEN1/var:L250S|UniProtKB:P49768-1, Leu-250, CHEBI:29999 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l250s EXP NCBITaxon:9606 Alzforum:psen1-l250s 20180510 PRO:DAN