Table 1 Somatic mtDNA mutations in esophageal cancer
From: Significance of somatic mutations and content alteration of mitochondrial DNA in esophageal cancer
Case | Gene | Tu vs Nl | Pattern | Codon | AA change | Comment | Frequency in normal population (Genbank) (%) |
|---|---|---|---|---|---|---|---|
E02 | D-loop | T310C, 303–315 ins C (C15) | HT→ HT |  |  | polymorphism | 16/1622 (0.99) |
E05 | D-loop | 303–309 del C (C8→ C7/8) | HM→ HT |  |  | polymorphism | 71/1622 (4.38) |
E05 | 12S | A1544T | HM→ HT |  |  | novel | 0/2460 (0) |
E09 | D-loop | 303–309 del C (C9/8→ C8/9) | HT→ HT |  |  | polymorphism | 71/1622 (4.38) |
E10 | D-loop | 303–309 ins C (C8→ C8/9) | HM→ HT |  |  | polymorphism | 50/1622 (3.08) |
E12 | ND4L | G10500A | HM→ HT | GCA→ ACA | A11T | novel | 0/1622 (0) |
E14 | D-loop | 303–309 ins CC (C7→ C9/10) | HM→ HT |  |  | polymorphism | 24/1622 (1.48) |
E14 | COIII | G9377A (back change) | HM→ HM | TGG→ TGA | W57W | polymorphism | 42/2460 (1.71) |
E15 | D-loop | 303–309 del C (C8/9→ C8) | HT→ HM |  |  | polymorphism | 71/1622 (4.38) |
E15 | ATPase 6 | A9182G (back change) | HT→ HM | AAC→ AGC | N219S | novel | 0/2460 (0) |
E16 | D-loop | 303–309 ins C (C7/8→ C7/8/9) | HT→ HT |  |  | polymorphism | 50/1622 (3.08) |
E17 | D-loop | 303–309 ins C (C8→ C9) | HM→ HM |  |  | polymorphism | 50/1622 (3.08) |
E18 | ND4 | 10941 del TAACAACCCCC | HM→ HT | frameshift | 110X | novel | 0/2460 (0) |
E19 | D-loop | 303–309 del CC (C9/10→ C7) | HT→ HM |  |  | polymorphism | 24/1622 (1.48) |