PR:000037691 presenilin-1 sequence variant E280A (human) hPSEN1/var:E280A|Paisa PSEN1|UniProtKB:P49768-1, Glu-280, CHEBI:46217 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-e280a-paisa EXP NCBITaxon:9606 Alzforum:psen1-e280a-paisa 20180510 PRO:DAN