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3D structure of wild type and mutant type of p.G661C and p.E966X in CPS1. (A) Wild type and mutant type of p.G661 in CPS1 shows the mutation of G661C changes the side strand structure and H-bond. (B) Wild type and mutant type of E966 in CPS1 shows the mutation of E661X leading to a truncated protein with missing 534 amino acids. The red arrows marked the sites of wild-type G661, E966, and mutated C661, X966.
