PR:000037717 presenilin-1 sequence variant L392V (human) hPSEN1/var:L392V|UniProtKB:P49768-1, Leu-392, CHEBI:30015 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l392v EXP NCBITaxon:9606 Alzforum:psen1-l392v 20180510 PRO:DAN