Infant cholestasis patient with a novel missense mutation in the AKR1D1 gene successfully treated by early adequate supplementation with chenodeoxycholic acid: A case report and review of the literature

Figure 2 Multiple sequence alignments from different species and structural model of the aldo-ketoreductase family 1 member D1 protein. A: Multiple sequence alignments; the red outline in the alignments shows the amino acid affected by the mutation; B: Wild-type model; C: The mutant model shows the alteration of the amino acid side chain caused by the R307C mutation.