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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