FIGURE 2.

The impacts of NDUFAF5 c.357C > G and c.611C > T mutations on the molecular structure of protein. (a) SWISS‐MODEL to predict the variant's wild type and mutated protein crystal structure. And changes of the structure have been identified in its transporter part. (b) Ramachandran plots of NDUFAF5 with or without p.D119E and p.A204V mutations respectively. (c and d) mCSM tool used to predict protein stability, revealed a decline in Gibbs free energy, indicating an unstable protein structure associated with this mutation