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Table 3 Context and effect of alleles observed in the six heteroplasmic sites

From: Dynamics of mitochondrial heteroplasmy in three families investigated via a repeatable re-sequencing study

      Reference   Mutated   
Position Type 11 bases prior to mutation site Reference base Strand Codon Amino acid Codon position Codon Amino acid S/N Gene
5,063 DN (germline), FS (germline) CCGTACAACCC T + cct Pro 3rd ccc Pro S NADH dehydrogenase subunit 2
7,028 FS (somatic) TACGTTGTAGC T + ggt Gly 3rd ggc Gly S Cytochrome c oxidase subunit I
8,992 FS (germline) AACCAATAGCC C + ctg Leu 1st ttg Leu S ATP synthase 6; ATPase subunit 6
14,053 WS ACCAAATCTCC A + acc Thr 1st ccc Pro N NADH dehydrogenase, subunit 5
  1. DN, de novo mutation; FS, allele frequency shift; WS, without allele frequency shift; N, nonsynonymous substitutions; S, synonymous substitutions.