Table 3.
Context and effect of alleles observed in the six heteroplasmic sites
| 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 |
DN, de novo mutation; FS, allele frequency shift; WS, without allele frequency shift; N, nonsynonymous substitutions; S, synonymous substitutions.