PR:000037683 presenilin-1 sequence variant V272A (human) hPSEN1/var:V272A|UniProtKB:P49768-1, Val-272, CHEBI:46217 associated_with_disease_progression DOID:10652 Alzheimer's disease Alzforum:psen1-v272a EXP NCBITaxon:9606 Alzforum:psen1-v272a 20180510 PRO:DAN