PR:000037682 presenilin-1 sequence variant L271V (human) hPSEN1/var:L271V|UniProtKB:P49768-1, Leu-271, CHEBI:30015 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l271v EXP NCBITaxon:9606 Alzforum:psen1-l271v 20180510 PRO:DAN