Table 2.
Somatic mitochondrial DNA mutations in endometrial cancer.
| Mutation | Gene | Mutation type | AA | References |
|---|---|---|---|---|
| m.152T>C | D-loop | Point mutation | - | [33] |
| m.251G>A | D-loop | Point mutation | - | [33] |
| m.294T>C | D-loop | Point mutation | - | [33] |
| m.289-346del | D-loop | 50bp deletion | - | [33] |
| m.305C>A | D-loop | Point mutation | - | [34] |
| m.306C>G | D-loop | Point mutation | - | [34] |
| m.303-309 | D-loop | mtMSI | - | [33,34,35,36,37] |
| m.309C>A | D-loop | Point mutation | - | [34] |
| m.514-523 | D-loop | mtMSI | - | [33,34,35,37] |
| m.16153G>A | D-loop | Point mutation | - | [32] |
| m.16182A>C | D-loop | Point mutation | - | [34] |
| m.16183A>C | D-loop | Point mutation | - | [34] |
| m.16184-16193 | D-loop | mtMSI | - | [33,34,35,37] |
| m.16188A>C | D-loop | Point mutation | - | [32] |
| m.16189T>C | D-loop | Point mutation | - | [34] |
| m.650T>C | 12S rRNA | Point mutation | - | [33] |
| m.817G>A | 12S rRNA | Point mutation | - | [33] |
| m.879T>C | 12S rRNA | Point mutation | - | [33] |
| m.956-965 | 12S rRNA | mtMSI | - | [33,34,35,37] |
| m.961T>C | 12S rRNA | Point mutation | - | [34] |
| m.1474G>A | 12S rRNA | Point mutation | - | [38] |
| m.3163G>A | 16S rRNA | Point mutation | - | [33] |
| m.3470T>Y | ND1 | Point mutation | L55P | [39] |
| m.3730T>Y | ND1 | Point mutation | Y142H | [39] |
| m.3670G>A | ND1 | Point mutation | A122T | [39] |
| m.3425T>Y | ND1 | Point mutation | V40A | [39] |
| m.4722A>G | ND2 | Point mutation | Y85A | [38] |
| m.5212T>C | ND2 | Point mutation | L248P | [39] |
| m.5567T>C | TW | Point mutation | - | [38] |
| m.6129G>R | COI | Point mutation | G76stop codon | [39] |
| m.6562T>C | COI | Point mutation | F220S | [39] |
| m.6822T>A | COI | Point mutation | S307T | [39] |
| m.6991T>Y | COI | Point mutation | L363P | [39] |
| m.7962T>Y | COII | Point mutation | L126S | [39] |
| m.8545G>A | ATP6 | Point mutation | A7T | [39] |
| m.10290G>A | ND3 | Point mutation | A78T | [39] |
| m.11863insC | ND4 | Point mutation | - | [38] |
| m.11873insC | ND4 | Point mutation | - | [38] |
| m.12425insA | ND5 | Point mutation | - | [38] |
| m.12439T>C | ND5 | Point mutation | Y35H | [39] |
| m.13718G>A | ND5 | Point mutation | S461N | [39] |
| m.13994T>C | ND5 | Point mutation | L553P | [38] |
| m.14279G>A | ND6 | Point mutation | S132L | [39] |
| m.14510delA | ND6 | Point mutation | - | [38] |
| m.15172G>A | CYB | Point mutation | S | [38] |
| m.15247C>T | CYB | Point mutation | S | [38] |
| m.15573T>C | CYB | Point mutation | F276S | [38] |
| m.15831T>C | CYB | Point mutation | I362T | [39] |
Abbreviations: mtMSI, mitochondrial microsatellite instability; AA, aminoacidic change; -, no change; S, synonymous mutation.