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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)
  1. 12S:12S ribosomal RNA, ND4L: NADH dehydrogenase subunit 4L, ND4:NADH dehydrogenase subunit 4, ATPase 6:ATP synthase F0 subunit 6, COIII: Cytochrome C oxidase subunit III
  2. HT: Heteroplasmy; HM: Homoplasmy, AA: Amino Acid, Tu: tumor, Nl: Normal
  3. Missense and novel mutations are in bold
  4. Total mutation: 14, hm→ ht: 6, ht→ hm:3, hm→ hm: 2, ht→ ht: 3