Table 1. Somatic mtDNA mutations in breast cancer.
| Patient ID | Gene | rCRS | Mutation | N > T | Variants % | AAC | Pathogenicity predictions | |||
|---|---|---|---|---|---|---|---|---|---|---|
| CADD | Polyphen2 | SIFT | APOGEE | |||||||
| P001 | D-loop | C | C150T | Homo > Hetero | 80.51 | Neutral | ||||
| D-loop | A | A214G | Homo > Hetero | 83.32 | Neutral | |||||
| 16S rRNA | T | T2171Ca | Homo > Hetero | 10.25 | Neutral | |||||
| TI | G | G4309A | Homo > Hetero | 2.24 | Neutral | |||||
| TQ | A | A4343G | Homo > Hetero | 28.95 | Neutral | |||||
| ATP6 | T | T8547C | Homo > Hetero | 2.07 | L7P | Deleterious | Probably damaging | Neutral | Neutral | |
| ND5 | G | G12979Aa | Homo > Hetero | 34.34 | G215S | Deleterious | Benign | Neutral | Neutral | |
| ND5 | G | G13138Aa | Homo > Hetero | 22.19 | E268K | Deleterious | Probably damaging | Neutral | Neutral | |
| D-loop | A | A16233G | Homo > Hetero | 26.18 | Neutral | |||||
| P004 | ND1 | C | C3738T | Homo > Hetero | 2.26 | V144V | Neutral | |||
| ND2 | A | A4767G | Homo > Hetero | 1.35 | M100V | Neutral | Benign | Neutral | Neutral | |
| ND4 | T | T10908C | Homo > Hetero | 15.6 | F50S | Neutral | Benign | Neutral | Neutral | |
| P007 | ND2 | G | G4665Aa | Homo > Hetero | 3.6 | A66T | Deleterious | Probably damaging | Neutral | Neutral |
| CO1 | G | G6517Aa | Homo > Hetero | 43.05 | G205D | Deleterious | Probably damaging | Deleterious | Pathogenic | |
| ND5 | T | T12365Ca | Homo > Hetero | 10.09 | L10P | Deleterious | unknown | Neutral | Neutral | |
| ND5 | T | T14102Ca | Homo > Hetero | 7.01 | L589P | Deleterious | Probably damaging | Neutral | Neutral | |
| ND6 | G | G14453A | Homo > Hetero | 1.23 | A74V | Deleterious | Probably damaging | Neutral | Pathogenic | |
| P014 | 16S rRNA | G | G2701A | Homo > Hetero | 37.97 | Neutral | ||||
| ND1 | G | G3380A | Homo > Hetero | 5.63 | R25Q | Deleterious | Probably damaging | Neutral | Pathogenic | |
| P016 | D-loop | C | C186T | Homo > Hetero | 85.65 | Neutral | ||||
| 12S rRNA | G | G951A | Homo > Hetero | 1.86 | Neutral | |||||
| ND2 | A | A4870Ta | Homo > Hetero | 6.28 | Q134L | Deleterious | Probably damaging | Neutral | Neutral | |
| ND2 | T | T4911C | Homo > Hetero | 5.15 | S148P | Deleterious | Benign | Neutral | Neutral | |
| TN | A | A5711G | Homo > Hetero | 1.62 | Neutral | |||||
| CO3 | T | T9280Ca | Homo > Hetero | 41.59 | L25P | Deleterious | Probably damaging | Neutral | Neutral | |
| ND3 | T | T10076C | Homo > Hetero | 3.88 | I6I | Neutral | ||||
| TE | G | G14698Aa | Homo > Hetero | 7.19 | Neutral | |||||
| P017 | CO3 | G | G9838Aa | Homo > Hetero | 3.88 | G211D | Deleterious | Probably damaging | Neutral | Pathogenic |
| P019 | 12S rRNA | A | A1528Ga | Hetero > Hetero | 1.29 | Neutral | ||||
| P022 | 12S rRNA | G | G945Aa | Homo > Hetero | 1.46 | Neutral | ||||
| CO1 | G | G6810Aa | Homo > Hetero | 1.68 | A303T | Deleterious | Probably damaging | Neutral | Neutral | |
| CO3 | G | G9820A | Homo > Hetero | 1.08 | G205E | Deleterious | Probably damaging | Neutral | Pathogenic | |
| ND5 | A | A12612G | Homo > Hetero | 45.94 | V92V | Neutral | ||||
| ND5 | A | A13183G | Homo > Hetero | 1.16 | I283V | Deleterious | Benign | Neutral | Neutral | |
| CYB | G | G14869A | Homo > Hetero | 1.25 | L41L | Neutral | ||||
| CYB | G | G15699Aa | Homo > Hetero | 1.6 | R318H | Deleterious | Probably damaging | Neutral | Neutral | |
| P023 | 16S rRNA | T | T2233Ca | Homo > Hetero | 3.85 | Neutral | ||||
| 16S rRNA | G | G2732Aa | Homo > Hetero | 1.14 | Neutral | |||||
| ND4 | G | G11226Aa | Homo > Hetero | 2.86 | G156D | Deleterious | Probably damaging | Deleterious | Pathogenic | |
| P027 | CO1 | G | G5991A | Homo > Hetero | 7.72 | G30S | Deleterious | Probably damaging | Deleterious | Pathogenic |
| P034 | 16S rRNA | A | A2623G | Homo > Hetero | 2.38 | Neutral | ||||
| 16S rRNA | G | G2702A | Homo > Hetero | 1.35 | neutral | |||||
| CO3 | G | G9868A | Homo > Hetero | 56.27 | R221H | Deleterious | Possibly damaging | Neutral | Pathogenic | |
| ND5 | C | C12906T | Homo > Hetero | 1.08 | I190I | Neutral | ||||
| D-loop | A | A16165G | Hetero > Hetero | 53.49 | Neutral | |||||
| P037 | TI | G | G4282A | Homo > Hetero | 1.68 | Neutral | ||||
| CYB | C | C15702Ta | Homo > Hetero | 4.7 | P319L | Deleterious | Probably damaging | Neutral | Neutral | |
| P041 | 16S rRNA | G | G2333Aa | Homo > Hetero | 6.7 | Neutral | ||||
| 16S rRNA | G | G2815A | Homo > Hetero | 15.3 | Neutral | |||||
| ND2 | T | T5130Ca | Homo > Hetero | 1.04 | L221L | Neutral | ||||
| ND2 | T | T5200Ca | Homo > Hetero | 2.31 | I244T | Deleterious | Benign | Neutral | Neutral | |
| CO1 | G | G6028Aa | Homo > Hetero | 25.54 | G42D | Deleterious | Probably damaging | Deleterious | Neutral | |
| ND5 | G | G13099Ca | Homo > Hetero | 3.3 | A255P | Deleterious | Probably damaging | Neutral | Pathogenic | |
| P046 | ND1 | G | G4244Aa | Homo > Hetero | 10.81 | S313N | Neutral | Benign | Neutral | Neutral |
| CYB | G | G14963A | Homo > Hetero | 30.63 | V73M | Deleterious | Probably damaging | Neutral | Neutral | |
| P048 | ND1 | T | T4007Ca | Homo > Hetero | 1.71 | M234T | Deleterious | Probably damaging | Neutral | Pathogenic |
| P049 | TP | T | T15971Ca | Homo > Hetero | 8.83 | Neutral | ||||
| D-loop | C | C16295Ta | Homo > Hetero | 3.46 | Neutral | |||||
| P056 | TF | G | G627Aa | Homo > Hetero | 1.01 | Neutral | ||||
| ATP6 | G | G8854A | Homo > Hetero | 1.68 | A110T | Deleterious | Benign | Deleterious | Neutral | |
| ND4 | G | G10775A | Homo > Hetero | 4.59 | V6I | Neutral | Benign | Neutral | Neutral | |
| ND5 | G | G12835Aa | Homo > Hetero | 1.08 | A167T | Deleterious | Probably damaging | Neutral | Neutral | |
| P057 | D-loop | G | G513A | Homo > Hetero | 1.06 | Neutral | ||||
| 16S rRNA | G | G3022A | Homo > Hetero | 7.58 | Neutral | |||||
| TW | G | G5521A | Homo > Hetero | 37.04 | Neutral | |||||
a Novel variants; N>T, normal to tumour heteroplasmic pattern; AAC, amino acid change.