Table 3.
Cancer cohort mutations detected
| MitoMap Position | Blood | Tumor | Body Fluid | Gene | amino acid/location | ||
| Lung | 1 | 1719 G | * | r | * | 16S rRNA | - |
| 2312 A | * | * | r | 16S rRNA | - | ||
| 3385 A | g | r | g | ND1 | Ile>Val | ||
| 3450 C | t | y | t | ND1 | Pro>Pro | ||
| 3480 A | * | r | * | ND1 | Lys>Lys | ||
| 4901 A | g | r | g | ND2 | Gln>Gln | ||
| 5773 G | a | r | a | tRNACys | T arm | ||
| 2 | 3450 C | * | y | n/a | ND1 | Pro>Pro | |
| 4580 G | a | r | n/a | ND2 | Met>Met | ||
| 4901 A | * | r | n/a | ND2 | Gln>Gln | ||
| 3 | 16162 A | * | g | * | D-Loop | - | |
| 16284 A | * | g | * | D-Loop | - | ||
| 4 | 10245 T | * | y | * | ND3 | Leu(2)>Leu(1) | |
| 13856 T | * | y | * | ND5 | Leu2>Pro | ||
| 5 | 10427 G | * | r | * | tRNAArg | anticodon arm | |
| 10885 T | * | y | * | ND4 | Phe>Phe | ||
| 11083 A | * | r | * | ND4 | Met>Met | ||
| 6 | 8705 T | * | * | y | ATPase 6 | Met>Thr | |
| 7 | - | - | - | - | - | - | |
| 9 | 6413 T | c | c | y | COI | Asp>Asp | |
| 11072 T | * | y | * | ND4 | Ser(1)>Pro | ||
| Bladder | 1 | 12236 G | * | r | n/a | tRNASer | - |
| 2 | 12477 T | * | y | * | ND5 | Ser(2)>Ser(2) | |
| 3 | 1193 T | * | y | * | 12S rRNA | - | |
| 4 | 5169 T | * | n/a | y | ND2 | Trp>Arg | |
| 6483 C | * | n/a | y | COI | Leu(2)>Phe | ||
| 10668 G | * | n/a | r | ND4L | Ala>Thr | ||
| 12714 T | * | n/a | y | ND5 | Ile>Ile | ||
| Kidney | 1 | 841 A | * | r | * | 12S rRNA | - |
| 2731 T | * | y | * | 16S rRNA | - | ||
| 12139 T | * | y | * | tRNAHis | acceptor arm | ||
| 2 | 1816 G | * | r | n/a | 16S rRNA | - | |
| 3454 G | * | r | n/a | ND1 | Ala>Thr | ||
| 3 | 12477 T | * | y | * | ND5 | Ser(1)>Ser(2) | |
| 4 | 841 A | * | r | * | 12S rRNA | - | |
| 11394 T | * | y | * | ND4 | Leu(1)>Pro | ||
| 5 | 12148 T | * | y | n/a | tRNAHis | D arm | |
| 6 | 1074 G | * | r | * | 12S rRNA | - | |
| 3244 G | * | r | * | tRNALeu | D arm | ||
| 14766 C | t | t | * | CytB | Ile>Thr | ||
| 7 | - | - | n/a | - | - | - | |
| 8 | 6800 A | * | * | g | COI | Val>Val | |
| 9 | 15283 T | * | y | * | CytB | Phe>Phe | |
| 10 | 12471 T | * | * | y | ND5 | Ile>Ile | |
| 11 | - | - | - | - | - | - | |
| 12 | 12714 T | * | * | y | ND5 | Ile>Ile | |
| 13 | 7148 T | * | y | * | CO I | Thr>Thr | |
| 14 | 72 T | * | a | * | D-Loop | - |
* : sequence identical to reference sequence
n/a : no data available due to insufficient DNA quantity or STR genotyping results
- : no sequence differences between samples or unknown change to gene
r: purine heteroplasmy (A + G)
y: pyrimidine heteroplasmy (C + T)