Table 1 Control region point heteroplasmies detected in more than one person
From: Mitochondrial point heteroplasmy: insights from deep-sequencing of human replicate samples
Mitochondrial (MT) locus | Position | Major allele | Minor allele | Substitution rate [46] | No. Persons | Total no. PHPs (both tissues) | Median MAF*% (MIN% -MAX%) | No. persons reported in [10] | No. mother-child duos reported in [6] |
|---|---|---|---|---|---|---|---|---|---|
MT-HV2 | 189 | A | G | 31 | 6 | 7 | 0.5 (0.3–0.6) | 103 | 3 |
MT-HV1 | 16129 | G | A | 86 | 6 | 6 | 0.2 (0.2–0.6) | 1 (5 A>G)‡ | / |
MT-HV2 | 152 | T | C | 157 | 5 | 7 | 0.2 (0.2–5.1) | 10 | 1 |
MT-HV1 | 16293 | A | G | 17 | 5 | 5 | 0.3 (0.2–0.5) | 1 | / |
Control region | 16519 | C | T | 209 | 4 | 6 | 0.3 (0.1–2.8) | 1 (9 T>C)‡ | / |
MT-HV2 | 146 | T | C | 109 | 4 | 4 | 0.3 (0.1–0.4) | 2 | / |
MT-HV1 | 16093 | C | T | 79 | 3 | 6 | 3.0 (1.6–12) | 6 | 3 |
MT-HV2 | 204 | T | C | 43 | 3 | 5 | 0.4 (0.3–2.1) | 26 | 1 |
MT-HV1 | 16286 | T | C | 5 | 2 | 4 | 1.9 (0.9–39.6) | / | / |
MT-HV1 | 16311 | T | C | 120 | 2 | 3 | 0.5 (0.3–6.8) | / (2 C>T)‡ | / |
MT-HV2 | 214 | A | G | 10 | 2 | 3 | 2.3 (0.2–49.6†) | / (2 A>T) | 3 |
Control region | 16390 | G | A | 31 | 2 | 3 | 2.4 (0.1–18.3) | 17 | / |
MT-HV2 | 195 | T | C | 98 | 2 | 2 | 2.6 (0.4–4.7) | 3 | 1 |