Fig. 2

Structural illustration of the missense mutation in SRY. The mutation site in the wild-type (WT) SRY protein model (a) and mutant (MUT) SRY protein model (b) are shown in a and b. This mutation may affect the binding of SRY to the DNA duplex. We obtained the structure prediction of wild-type SRY protein from the Alphafold database. PyMOL Viewer software was used to generate the mutant SRY protein and visualize the effects of altered residues on protein-structure models. This single nucleotide mutation was predicted to change leucine to arginine at position 94. Importantly, the arginine in the mutated protein was predicted to generate a novel covalent bond. We assumed that the altered band may thus affect the function of SRY as a transcriptional regulator to recognize DNA double strands