PR:000045470 presenilin-1 sequence variant E280K (human) hPSEN1/var:E280K|UniProtKB:P49768-1, Glu-280, CHEBI:29967 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-e280k EXP NCBITaxon:9606 Alzforum:psen1-e280k 20180510 PRO:DAN