Table 2.
mtDNA mutations in nononcocytic samples
| Sample | Diagnosis | Base change | Amino acid change | Gene | Het., % | PSIC | Database |
|---|---|---|---|---|---|---|---|
| BRCA3 | BRduct | T12601C | F89L | ND5 | − | 2.086 | Novel |
| BRCA9 | BRduct | A13973T | Q546L | ND5 | − | 1.551 | HmtDB |
| BRCA10 | BRlob | T9903C | F233L | COXIII | − | 2.458 | HmtDB |
| BRCA5 | BRduct | T9119C | L198P | ATP6 | + | 2.429 | Novel |
| G5 | AST | T4016G | L237R | ND1 | + | 2.151 | Novel |
| G15 | AST | T11204C | F149L | ND4 | − | 1.513 | HmtDB |
| TC6 | FA | A12961G | S209G | ND5 | − | 1.521 | HmtDB |
| TC7 | HTN | T11204C | F149L | ND4 | − | 1.513 | HmtDB |
| TC12 | PTC | T11736C | L326P | ND4 | − | 2.552 | Novel |
| TC19 | PTC | 10116delAT | 31X | ND3 | − | − | Novel |
| TC8 | FTC | G3842A | W179X | ND1 | 38 | − | Novel |
| TC18 | PTC | C7441A | S513Y | COXI | − | 1.626 | Novel |
| TC16 | PTC | A8725G | T67A | ATP6 | − | 1.537 | Novel |
| TC4 | HTN | G8572A | G16S | ATP6 | − | 1.983 | HmtDB |
Het., heteroplasmy (% of mutated); AST, astrocytoma; BRduct, invasive ductal carcinoma of the breast; BRlob, invasive lobular carcinoma of the breast; FA, follicular thyroid adenoma; FTC, follicular thyroid carcinoma; HTN, hyperplastic thyroid module; PTC, papillary thyroid carcinoma. Bold indicates disruptive mutations.