The distribution of variant frequency and assessing the pathogenicity score in 30,506 mtDNA sequences.

<p>(A) Circos plot summarizing all of the genetic data in 30,506 mtDNA sequences. From outside the circle to inside: (1) mtDNA position, (2) mtDNA genes, (3) mtDNA Complex, (4) frequency of all variants in 30,506 mitochondrial sequences(range 0 to 98.70%), (5) frequency of diseases-causing mutations in 30,506 mitochondrial sequences(range 0 to 0.89%), (6) frequency of all variants in L group(range 0 to 99.45%), (7) frequency of diseases-causing mutations in L group(range 0 to 0.65%), (8) frequency of all variants in M group(range 0 to 99.60%), (9) frequency of diseases-causing mutations in M group(range 0 to 3.11%), (10) frequency of all variants in N group(range 0 to 98.60%), (11) frequency of diseases-causing mutations in N(range 0 to 1.26%), Color code for circles (4)–(11): Red—frequency of diseases-causing mutations, blue—frequency of all variants. (B) The distribution of frequency of variants in each macro-haplogroup. MtDNA variants in were ordered based on frequency from high to low. The right-hand panel highlights the variants with frequency above 0.5% in each group. (C) Probability distributions of the observed pathogenicity scores for all population variants and defined disease-causing mutations. (D) Probability distributions of the pathogenicity scores for all variants and disease-causing mutations within each macro-haplogroup. (E) Proportion of samples carrying disease-causing mutations. (F) Percentage of mtDNA sequences harboring two of more disease-causing mutations.