PR:000045453 presenilin-1 sequence variant L134R (human) hPSEN1/var:L134R|UniProtKB:P49768-1, Leu-134, CHEBI:29952 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-l134r EXP NCBITaxon:9606 Alzforum:psen1-l134r 20180510 PRO:DAN