Fig. 2

The distribution of mutations and assessment of the pathogenicity score in major haplogroups. Circos plot summarizing all of the mtDNA variants in biopsies. From outside of the circle to inside: (1) genes on the mitochondrial genome, colored by the genome region as yellow: D-loop; purple: coding genes; green: rRNAs; orange: tRNAs. (2) mtDNA position. (3) phastCons100 conservation scores from UCSC (range 0 to 1 from inner to outer ring, where score > 0.5 as conserved sites and < 0.5 as non-conserved sites). (4) heteroplasmy level (HL) of all mutations in H group. (5) HL of disease-causing mutations in H group. (6) HL of all mutations in HV group. (7) HL of disease-causing mutations in HV group. (8) HL of all mutations in U group. (9) HL of disease-causing mutations in U group. From (4– 9), HL from inner 0% to outer 100% (homoplasmic mutation), blue color: HL of all mutations, red color: HL of disease-causing mutations