PR:000037592 presenilin-1 sequence variant I143V (human) hPSEN1/var:I143V|UniProtKB:P49768-1, Ile-143, CHEBI:30015 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-i143v EXP NCBITaxon:9606 Alzforum:psen1-i143v 20180510 PRO:DAN