FIGURE 1.

Deleterious NSUN5 mutations in TOF patients. (A) Predicted deleterious mutations and association with risk of TOF (132 TOF patients and 2,000 in-house controls). (B) Schematic representation of a NSUN5 structure with C5-methylase, RsmB/RsmF domain, S-adenosylmethionine -dependent methyltransferases domain and S-adenosylmethionine binding domain and the top were NSUN5 predicted pathogenic mutations identified in our study. Fisher’s exact test was used for statistical calculation. (C) Quantitative real-time PCR analysis of NSUN5 in mutant forms. (D) Western blot analysis of NSUN5 in mutant forms. (E,F) Dot blot analysis of m⁵C level in mutant forms. The values represent the mean ± SEM of three independent experiments. Unpaired Student’s t-test was used for statistical calculation. *P < 0.05, **P < 0.01.