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. Author manuscript; available in PMC: 2016 Mar 18.
Published in final edited form as: Neurogenetics. 2014 Sep 6;16(1):1–9. doi: 10.1007/s10048-014-0421-1

Figure 3.

Figure 3

Mutations of CHCHD10 in patients with mitochondrial myopathy. Sequencing of CHCHD10 in the index patient identified a double missense mutation (R15S; G58R) in cis in the coding region (a and b). Both mutations co-segregated with disease phenotype in this large mitochondrial myopathy pedigree (a). The first, a C to A substitution at position 43 at the level of coding DNA (c.43C>A), is predicted to result in an amino acid substitution of arginine by a serine at codon 15 at the protein level (p.R15S) (b). The second mutation at nucleotide position 172 (c.172G>C) is predicted to cause a substitution of a glycine by an arginine at codon 58 (p.G58R) (b). (c) Evolutionary conservation of amino acids in the mutated region of CHCHD10 in various species. Mutated amino acids are highlighted in yellow. Nonconserved residues are shown in red.