Table 2. Gain of somatic mutations of the entire mitochodrial DNA genome in renal carcinoma tissues.
| Case | Tumour type | Grade | Nucleotide position | Heteroplasmya in tumour (%) | Gene | Amino acid | Notes |
|---|---|---|---|---|---|---|---|
| 1 | Conv. RCb | 2/3 | C338T | <25 | D-loop | c | |
| 1 | A1578G | <25 | 12S rRNA | d | |||
| 1 | G12007A | <25 | ND4 | syn | c | ||
| 2 | Conv. RC | 3 | G4584A | <25 | ND2 | A39T | d |
| 3 | Conv. RC | 2 | G94A | >75 | D-loop | c | |
| 3 | A7423G | <25 | COI | E507G | d | ||
| 4 | Conv. RC | 3 | T204C | 25–75 | D-loop | c | |
| 4 | A3243G | >75 | tRNA LEU(UUR) | MELAS | |||
| 4 | G1169A | >75 | 12S rRNA | d | |||
| 4 | C12510A | >75 | ND5 | D58E | d | ||
| 5 | Papillary RC | 1 | T2222C | 25–75 | 16S rRNA | d | |
| 6 | Papillary RC | 2 | C1566T | <25 | 12S rRNA | d | |
| 6 | T10579C | <25 | ND4L | M37T | d | ||
| 7 | Sarkomatoid RC | 4 | C16174T | 25–75 | D-loop | c |
a
Estimated by denaturating HPLC analysis.
b
Conv.=conventional; RC=renal carcinoma; syn=synonymous.
cPreviously reported polymorphism (MITOMAP database).
dNovel mutation.