Fig. 2: Overview of mitochondrial SNV distributions. | Nature Communications

Fig. 2: Overview of mitochondrial SNV distributions.

From: Deleterious heteroplasmic mitochondrial mutations are associated with an increased risk of overall and cancer-specific mortality

Fig. 2

a Proportion of mitochondrial DNA positions with SNVs. b Proportion of SNVs that are heteroplasmic, homoplasmic, or both. c Number of possible SNVs that are heteroplasmic, homoplasmic, or both, grouped by protein complex or genic context. d Bar chart of the proportion of possible SNVs that are heteroplasmic, homoplasmic, or both grouped by protein complex or genic context scaled to 1. e Histogram of the median variant allele fraction (VAF) for variants seen as only a heteroplasmy or both a hetero- and homoplasmy among individuals with at least one heteroplasmic SNV (n = 59,414). The two histograms are overlaid. f Boxplot of the median VAF by type of mutation. The center line indicates the median, the box limits the lower and upper quartiles, the whiskers the 1.5× interquartile range, and the points outliers. g Number of participants in each haplogroup (n = 194,871). Haplogroups were grouped by phylogenetic similarity into the following: L is L0-L6; M is C, D, E, G, M, Q, Z; N is A, I, N, S, W, X Y; R is B, F, P, R; R0 is R0, HV, V; U is U, K; JT is JT, T; H is H only. h Mean heteroplasmy count (95% confidence intervals) by haplogroup adjusted for age, sex, center, and smoking status. Source data are provided as a Source Data file.

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