Those mutants include cystic fibrosis transmembrane conductance regulator (CFTR) (cystic fibrosis)23–26, aquaporin-2 (nephrogenic diabetes insipidus)27, HMG-CoA reductase (atherosclerosis)28 and a lysosomal enzyme β-glucocerebrosidase (GCase) (Gaucher’s disease)29,30. This evidence concerns the gene CFTR and nephrogenic diabetes insipidus.