Early-onset hepatic fibrosis linking to a novel PYROXD2 mutation: A case report

Figure 2 The 3D protein model, illustrating the location of the c. 1082dupT variant in the PYROXD2 protein. A: Wild-type PYROXD2 protein structure predicted by computational modeling; B: The mutant PYROXD2 protein structure, In the red highlighted region, proline substituted for leucine, simulated using PyMol; C: Overlap of the protein structures, with the mutant PYROXD2 protein shown in red and the wild-type PYROXD2 protein in green; D: In the wild-type PYROXD2 protein, the amino acid at position 581 is methionine; E: In the mutant PYROXD2 protein, a frameshift mutation results in the substitution of leucine with proline at position 362, leading to the introduction of a premature stop codon at position 411 in the amino acid sequence.