Extended Data Fig. 4: Potential functional impacts of mitochondrial mutations.

a, mtDNA mutation distribution on mitochondrial genome. Top panel: histogram that summarizes the mtDNA mutation numbers across mitochondrial genome. Bottom panel: individual mtDNA mutation coordinates and single-cell heteroplasmy level are shown simultaneously, with 4 categories of mutations: missense, nonsense, synonymous and non-coding. b-c, Mitochondrial genome-wide dN/dS ratio for missense and nonsense mutations in different mutation groups, based on single-cell heteroplasmy levels (as fraction) in b and based on the percentage of cells that carry the mutations in c. The bars indicate the 95% confidence interval. n = 4,837 mtDNA mutations. Asterisks indicates dN/dS ratios where the confidence intervals from dndscv were infinitive. d, Summarise of the number cell-type restricted mtDNA mutations on each of mitochondrial coding genes. e, dN/dS analysis for cell-type restricted mutations. Also see Supplementary Notes. The bars indicate the 95% confidence interval. n = 933 mtDNA mutations.