PR:000037591 presenilin-1 sequence variant I143N (human) hPSEN1/var:I143N|UniProtKB:P49768-1, Ile-143, CHEBI:50347 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-i143n EXP NCBITaxon:9606 Alzforum:psen1-i143n 20180510 PRO:DAN