PR:000037583 presenilin-1 sequence variant E123K (human) hPSEN1/var:E123K|UniProtKB:P49768-1, Glu-123, CHEBI:29967 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-e123k EXP NCBITaxon:9606 Alzforum:psen1-e123k 20180510 PRO:DAN