Skip to main content

Table 4 Mitochondrial 12S rRNA variants identified in this study

From: Genetic mutations of GJB2 and mitochondrial 12S rRNA in nonsyndromic hearing loss in Jiangsu Province of China

Nucleotide change

Homo/heteroplasmy

NSHL (N = 658)

Freq in patients(%)

Controls (N = 462)

Freq in controls(%)

conservation indexa

Chinese (N = 1642)b

freq in Chinese(%)

Previous reportc

mtDBc(N = 2704)

Freq in mtDB (%)

663 A > G

homoplasmy

4

0.61

3

0.65

17/22(77.3% )

16

1.0

Yes

86

3.2

681 T > C

homoplasmy

9

1.37

6

1.30

18/22(81.8% )

30

1.8

Yes

11

0.4

709 G > A

homoplasmy

143

21.73

109

23.59

14/22(63.6% )

330

20.1

Yes

444

16.4

735 A > G

homoplasmy

4

0.61

2

0.43

16/22(72.7% )

10

0.6

Yes

3

0.1

750 A > G

homoplasmy

656

99.70

460

99.57

22/22(100% )

1638

99.8

Yes

2682

96.7

752 C > T

homoplasmy

16

2.43

15

3.25

22/22(100% )

51

3.1

Yes

20

0.7

789 T > C

homoplasmy

1

0.15

0

0.00

20/22(90.9% )

2

0.1

Yes

1

0.0

827 A > G

homoplasmy

24

3.65

13

2.81

20/22(90.9% )

54

3.3

Yes

54

2.0

961 insC

homoplasmy

15

2.28

1

0.22

20/22(90.9% )

25

1.5

Yes

37

1.4

961 delT + insC

both

2

0.30

0

0.00

20/22(90.9% )

1

0.1

Yes

no data

no data

961 T > C

homoplasmy

1

0.15

1

0.22

20/22(90.9% )

3

0.2

Yes

37

1.4

979C > T

homoplasmy

1

0.15

0

0.00

6/22(27.3% )

0

0.0

Yes

1

0.0

1005 T > C

both

29

4.41

22

4.76

9/22(40.9% )

72

4.4

Yes

7

0.3

1009 C > T

homoplasmy

4

0.61

3

0.65

3/22(13.6% )

10

0.6

Yes

2

0.1

1040 T > C

homoplasmy

1

0.15

0

0.00

8/22(36.4% )

0

0.0

Yes

2

0.1

1041 A > G

homoplasmy

6

0.91

1

0.22

7/22(31.8% )

11

0.7

Yes

14

0.5

1048 C > T

homoplasmy

17

2.58

11

2.38

13/22(59.1% )

48

2.8

Yes

51

1.9

1095 T > C

homoplasmy

6

0.91

1

0.22

22/22(100% )

10

0.6

Yes

5

0.2

1107 T > C

homoplasmy

46

6.99

29

6.28

18/22(81.8% )

103

6.3

Yes

34

1.3

1119 T > C

homoplasmy

23

3.50

19

4.11

13/22(59.1% )

53

3.2

Yes

26

1.0

1187 T > C

homoplasmy

3

0.46

1

0.22

11/22(50% )

0

0.0

Yes

1

0.0

1222A > G

homoplasmy

1

0.15

0

0.00

22/22(100% )

0

0.0

None

0

0.0

1282G > A

homoplasmy

2

0.30

0

0.00

13/22(59.1% )

0

0.0

Yes

2

0.1

1382A > C

homoplasmy

17

2.58

11

2.38

17/22(77.3% )

43

2.6

Yes

65

2.4

1415G > A

homoplasmy

1

0.15

0

0.00

8/22(36.4% )

1

0.1

Yes

1

0.0

1438A > G

homoplasmy

658

100.00

461

99.78

22/22(100% )

1640

99.9

Yes

2620

96.9

1494C > T

homoplasmy

4

0.61

0

0.00

18/22(81.8% )

3

0.2

Yes

1

0.0

1520 T > C

homoplasmy

3

0.46

0

0.00

6/22(27.3% )

6

0.4

Yes

3

0.1

1555A > G

homoplasmy

39

5.93

0

0.00

20/22(90.9% )

65

4.0

Yes

12

0.4

1598G > A

homoplasmy

14

2.13

10

2.16

22/22(100% )

49

3.0

Yes

67

2.5

  1. aThe conservation index (CI) was based on the results of the multiple alignment by ClustalW. See Additional file 1: Table S1 for information on the species used to calculate the sequence conservation; bData from the refrence [15]; cUppsala mtDB database [16].
Back to article page

Journal of Translational Medicine

ISSN: 1479-5876

Contact us