Fig. 5From: Clinical and genetic analysis of a case of late onset carbamoyl phosphate synthase I deficiency caused by CPS1 mutation and literature reviewThe c.4080_c.4091delAGGCATCCTGAT frameshift mutation did not result in a change in the reading frame, but only in an amino acid deletion, resulting in a change in protein length and structure. A is the wild type and B is the mutant. The protein prediction software SWISS-MODEL was used to predict the three-dimensional structure of the protein, with the red arrows pointing to the protein structure where the mutant differs from the wild type. C is the wild type and D is the mutantBack to article page