Table 2 Point heteroplasmies (PHPs) detected within the mtDNA coding region in 9 out of total 11 individuals. Two individuals’ samples do not exhibit PHPs in the coding region
From: Mitochondrial point heteroplasmy: insights from deep-sequencing of human replicate samples
Age at sampling | Individual | Position | Substitution rate [46] | Mitochondrial (MT) locus [45] | Mutation* | Major allele | Minor allele | MAF Buccal | MAF Blood | PolyPhen-2 prediction [50] |
|---|---|---|---|---|---|---|---|---|---|---|
48 | MW-0080 | 3586 | / | MT-ND1 | NS | C | T | 3.6% | 0 | BENIGN |
42 | MW-0020 | 7348 | / | MT-CO1 | NS | T | C | 0.6% | 0.8% | BENIGN |
38 | MW-0067 | 8034 | / | MT-CO2 | NS | T | C | 0.5% | 0.8% | BENIGN |
42 | MW-0020 | 9325 | 2 | MT-CO3 | NS | T | C | 6.3% | 3.6% | BENIGN |
37 | MW-0073 | 15731 | 3 | MT-CYB | NS | G | A | 0.2% | 0 | BENIGN |
38 | MW-0026 | 9164 | / | MT-ATP8 | NS | T | C | 0 | 0.3% | PROBABLY DAMAGING |
42 | MW-0020 | 9622 | / | MT-CO3 | NS | C | T | 0 | 0.1% | PROBABLY DAMAGING |
41 | MW-0065 | 9774 | / | MT-CO3 | NS | G | A | 0.3% | 0 | PROBABLY DAMAGING |
37 | MW-0012 | 9987 | / | MT-CO3 | NS | T | C | 0 | 0.8% | PROBABLY DAMAGING |
41 | MW-0065 | 11634 | / | MT-ND4 | NS | G | A | 0 | 0.4% | PROBABLY DAMAGING |
41 | MW-0065 | 14898 | / | MT-CYB | NS | T | C | 0.4% | 0 | PROBABLY DAMAGING |
41 | MW-0065 | 6179 | 3 | MT-CO1 | S | G | A | 1.0% | 3.9% | |
58 | MW-0087 | 8955 | 1 | MT-ATP7 | S | T | C | 3.2% | 2.0% | |
38 | MW-0026 | 9740 | 1 | MT-CO3 | S | C | T | 20.7% | 17.5% | |
38 | MW-0026 | 11887 | 3 | MT-ND4 | S | G | A | 0 | 0.3% | |
38 | MW-0067 | 14020 | 4 | MT-ND5 | S | T | C | 0.4% | 0 | |
38 | MW-0026 | 14539 | / | MT-ND6 | S | A | G | 27.7% | 25.5% | |
38 | MW-0026 | 14560 | 12 | MT-ND6 | S | G | A | 0 | 0.4% | |
37 | MW-0073 | 15343 | / | MT-CYB | S | C | T | 0.1% | 0 |