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Table 3 Cancer cohort mutations detected

From: Performance of mitochondrial DNA mutations detecting early stage cancer

  

MitoMap Position

Blood

Tumor

Body Fluid

Gene

amino acid/location

Lung

1

1719 G

*

r

*

16S rRNA

-

  

2312 A

*

*

r

16S rRNA

-

  

3385 A

g

r

g

ND1

Ile>Val

  

3450 C

t

y

t

ND1

Pro>Pro

  

3480 A

*

r

*

ND1

Lys>Lys

  

4901 A

g

r

g

ND2

Gln>Gln

  

5773 G

a

r

a

tRNACys

T arm

 

2

3450 C

*

y

n/a

ND1

Pro>Pro

  

4580 G

a

r

n/a

ND2

Met>Met

  

4901 A

*

r

n/a

ND2

Gln>Gln

 

3

16162 A

*

g

*

D-Loop

-

  

16284 A

*

g

*

D-Loop

-

 

4

10245 T

*

y

*

ND3

Leu(2)>Leu(1)

  

13856 T

*

y

*

ND5

Leu2>Pro

 

5

10427 G

*

r

*

tRNAArg

anticodon arm

  

10885 T

*

y

*

ND4

Phe>Phe

  

11083 A

*

r

*

ND4

Met>Met

 

6

8705 T

*

*

y

ATPase 6

Met>Thr

 

7

-

-

-

-

-

-

 

9

6413 T

c

c

y

COI

Asp>Asp

  

11072 T

*

y

*

ND4

Ser(1)>Pro

Bladder

1

12236 G

*

r

n/a

tRNASer

-

 

2

12477 T

*

y

*

ND5

Ser(2)>Ser(2)

 

3

1193 T

*

y

*

12S rRNA

-

 

4

5169 T

*

n/a

y

ND2

Trp>Arg

  

6483 C

*

n/a

y

COI

Leu(2)>Phe

  

10668 G

*

n/a

r

ND4L

Ala>Thr

  

12714 T

*

n/a

y

ND5

Ile>Ile

Kidney

1

841 A

*

r

*

12S rRNA

-

  

2731 T

*

y

*

16S rRNA

-

  

12139 T

*

y

*

tRNAHis

acceptor arm

 

2

1816 G

*

r

n/a

16S rRNA

-

  

3454 G

*

r

n/a

ND1

Ala>Thr

 

3

12477 T

*

y

*

ND5

Ser(1)>Ser(2)

 

4

841 A

*

r

*

12S rRNA

-

  

11394 T

*

y

*

ND4

Leu(1)>Pro

 

5

12148 T

*

y

n/a

tRNAHis

D arm

 

6

1074 G

*

r

*

12S rRNA

-

  

3244 G

*

r

*

tRNALeu

D arm

  

14766 C

t

t

*

CytB

Ile>Thr

 

7

-

-

n/a

-

-

-

 

8

6800 A

*

*

g

COI

Val>Val

 

9

15283 T

*

y

*

CytB

Phe>Phe

 

10

12471 T

*

*

y

ND5

Ile>Ile

 

11

-

-

-

-

-

-

 

12

12714 T

*

*

y

ND5

Ile>Ile

 

13

7148 T

*

y

*

CO I

Thr>Thr

 

14

72 T

*

a

*

D-Loop

-

  1. * : sequence identical to reference sequence
  2. n/a : no data available due to insufficient DNA quantity or STR genotyping results
  3. - : no sequence differences between samples or unknown change to gene
  4. r: purine heteroplasmy (A + G)
  5. y: pyrimidine heteroplasmy (C + T)