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. 2020 Feb 12;11(2):192. doi: 10.3390/genes11020192

Figure 1.

Figure 1

Mitochondrial DNA (mtDNA) mutations reported in different types of diseases. Mitochondrial genome diagram and common mutations reported in human diseases. Mutations are depicted by locations of mutated base, and the single large-scale deletions are shown in the center of the genome. (C: cytosine, G: guanine, T: thymine, A: adenine, ins: insertion, del: deletion). The D-loop, a non-coding region; ND1, reduced nicotinamide adenine dinucleotide (NADH) ubiquinone oxidoreductase chain 1; ND2, NADH ubiquinone oxidoreductase chain 2; COX I, cytochrome oxidase I; COX II, cytochrome oxidase II; ATP 8, ATP synthase 8; ATP 6, ATP synthase 6; COX III, cytochrome oxidase III; ND3, NADH dehydrogenase 3; ND4L, NADH ubiquinone oxidoreductase chain 4L; ND4, NADH dehydrogenase 4; ND5, NADH dehydrogenase 5; ND6, NADH dehydrogenase 6; CYB, cytochrome b.