PR:000037711 presenilin-1 sequence variant L381V (human) hPSEN1/var:L381V|UniProtKB:P49768-1, Leu-381, CHEBI:30015 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l381v EXP NCBITaxon:9606 Alzforum:psen1-l381v 20180510 PRO:DAN