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Table 5 The mtDNA mutations identified in the ND1, ND2, and ATPase6 genes

From: Assessment of correlation between asthenozoospermia and mitochondrial DNA mutations in Egyptian infertile men

Nucleotide position

Nucleotide change

Amino acid change

Mutation in Normo.

Mutation in Astheno.

Frequency (%)

Mitomap (Y)

ND1 gene

 3396

T–C

Silent

 

1

6.6

Y

 3398

T–C

M–T

 

1

6.6

X

 3423

T–C

Silent

 

1

6.6

X

 3594

C–T

Silent

 

2

13.3

Y

 3693

G–A

Silent

 

1

6.6

Y

 3705

G–A

Silent

 

2

13.3

Y

 3821

T–C

L–P

 

1

6.6

Y

 4048

G–A

D–N

 

1

6.6

Y

 4104

A–G

Silent

1

2

20.0

Y

 4158

A–G

Silent

1

 

6.6

Y

 4169

Ins. T

L–P

1

1

13.3

Y

 4216

T–C

Y–H

1

 

6.6

Y

ND2 gene

 4613

Del A

Silent

1

1

13.3

X

 4767

A–G

M–V

1

6

46.6

Y

 4769

A–G

Silent

1

1

13.3

Y

 4856

T–C

Silent

 

1

6.6

Y

 4940

C–T

Silent

 

1

6.6

Y

 4958

A–G

Silent

 

1

13.3

Y

 4991

G–A

Silent

2

1

20.0

Y

 5004

T–C

Silent

 

1

6.6

Y

 5027

C–T

Silent

1

 

6.6

Y

 5111

C–T

Silent

 

1

6.6

Y

 5147

G–A

Silent

1

3

26.6

Y

 5320

C–T

T–I

1

1

13.3

Y

 5331

C–A

P–H

1

 

6.6

Y

 5351

A–G

Silent

2

1

20.0

Y

ATPase 6 gene

 8697

G–A

Silent

1

 

6.6

Y

 8701

A–G

T–A

1

6

46.6

Y

 8860

A–G

T–A

1

6

46.6

Y

 9075

C–T

Silent

1

2

13.3

Y

 9148

T–C

Silent

 

1

6.6

Y

Total mutation numbers = 31

  1. Y the mutation proven by www.mitomap.org, X novel mutation