Table 2 Characterization of positions presenting heteroplasmy.
From: Mutation patterns of mtDNA: Empirical inferences for the coding region
Family | Position | Type of mutation and Implication | Homoplasmic individuals of the family/Referencea/Chimpanzeeb | Germline | Number of hitsc | Population Database frequency |
|---|---|---|---|---|---|---|
AV | 3260 A>G | Substitution in the tRNALeuassociated with Myopaty and Cardiomiopaty | A/A/A | Yes | 0 | 100% A 0% G |
CG_II | 3396 T>C | Synonymous substitution in ND1 | T/T/C | No? | 4 | 99.73% T 0.27% C |
JS | 3602 A>G | Nonsynonymous substitution in ND1 that implies an Asparagine to Serine amino acid change. | A/A/A | Yes | 0 | 100% A 0% G |