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Table 2 Novel germ-line sequence variations in esophageal cancer

From: Significance of somatic mutations and content alteration of mitochondrial DNA in esophageal cancer

Case Gene Change Pattern Position Codon AA change Frequency in this study Frequency in normal population (Genbank) (%)
E01 ND5 T12957C Hm 12957 AAT→ AAC N207N 1 9/2461 (3.66)
E02 ND4 A11976C Ht 11976 TAC→ TCC Y406S 1 0/2461 (0)
E03 Dloop C481T Hm 481    1 3/1901 (0.16)
E08 ND5 G12561A Hm 12561 CAG→ CAA Q75Q 1 4/2461 (0.16)
E13 D-loop(mtTF1 binding site) G251A Hm 251    1 0/1624 (0)
E13 ND4L T10609C Hm 10609 ATA→ ACA M47T 1 44/2461 (1.79)
E13 ND5 G13928C Hm 13928 AGC→ ACC S531T 1 78/2461 (3.17)
E15 ATPase 6 G9182A Ht 9182 AGC→ AAC S219N 1 4/2461 (0.16)
E16 COII G7912C Hm 7912 GAG→ GAC E109D 1 0/2461 (0)
E19 COII T7711C Hm 7711 CTT→ CTC L42L 1 8/2461 (0.32)
  1. MtTF1: mitochondrial transcription factor, ND5:NADH dehydrogenase subunit 5, COII: Cytochrome c oxidase subunit II
  2. Missense mutations are in bold