Figure 4.

Location of “definitely pathogenic” mutations across the mt-tRNAs. The number of “definitely pathogenic” mt-tRNA point mutations found at various locations throughout the cloverleaf are shown by the use of a gradient color scale; lighter colors equate to fewer mutations, whereas darker colors specify more mutations. “Definitely pathogenic” mutations occur mainly in the stems and to a lesser degree in the loops with the notable exception of a position in the DHU-loop, which includes the m.3243A>G MT-TL1 mutation, and the third base of the anticodon.