PR:000037729 presenilin-1 sequence variant L424V (human) hPSEN1/var:L424V|UniProtKB:P49768-1, Leu-424, CHEBI:30015 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l424v EXP NCBITaxon:9606 Alzforum:psen1-l424v 20180510 PRO:DAN