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Table 2 Variants in the mitochondrial 12S rRNA gene in 440 hearing-impaired Han Chinese subjects

From: Frequency and spectrum of mitochondrial 12S rRNA variants in 440 Han Chinese hearing impaired pediatric subjects from two otology clinics

Position

Replacement

Conservation

index (%)a

WC

base-pairsb

Previously

reportedc

Number of

affected subjects

Percentage (%)

Number of

controls (number/449)

Percentage (%)

663

A to G

78.6

↓A-U

Yes

15

3.40

5

1.1

681

T to C

85.7

↓U-A

Yes

5

1.13

8

1.8

709

G to A

64.3

↓G-C

Yes

90

20.41

102

22.7

723

A to G

28.6

 

Yes

2

0.45

2

0.4

735

A to G

78.6

 

Yes

2

0.45

5

1.11

747

A to G

100

↓A-U

No

1

0.23

0

0

752

C to T

100

 

Yes

26

6.12

17

3.8

789

T to C

85.7

 

Yes

1

0.23

1

0.2

813

A to G

28.6

 

Yes

1

0.23

0

0

827

A to G

92.9

 

Yes

16

3.63

12

2.7

839 d

A to G

78.6

↓A-U

Yes

1

0.23

0

0

929

A to T

42.9

↓A-U

No

1

0.23

0

0

942

A to G

64.3

 

Yes

1

0.23

0

0

951

G to A

92.9

↓G-C

Yes

2

0.45

2

0.4

953

T to C

57.1

 

Yes

1

0.23

0

0

961

insC

42.9

 

Yes

9

2.04

14

3.1

961

T to C

42.9

 

Yes

2

0.23

4

0.9

980

T to C

64.3

↓U-A

Yes

3

0.68

0

0

990

T to C

71.4

↓U-A

Yes

1

0.23

0

0

1005

T to C

35.7

 

Yes

21

4.76

22

4.9

1009

C to T

21.4

 

Yes

6

1.36

8

1.8

1027

A to G

92.9

 

Yes

1

0.23

0

0

1041

A to G

42.9

 

Yes

2

0.45

4

0.9

1048

C to T

57.1

 

Yes

10

2.27

11

2.4

1095

T to C

92.9

↓U-A

Yes

4

0.91

1

0.2

1107

T to C

85.7

 

Yes

36

8.39

25

5.6

1119

T to C

50.0

 

Yes

13

2.95

17

3.8

1187

T to C

57.1

 

Yes

1

0.23

0

0

1282

G to A

71.4

 

Yes

1

0.23

0

0

1310

C to T

85.7

↓G-C

Yes

1

0.23

0

0

1382

A to C

92.9

↓A-U

Yes

14

3.17

9

2.0

1391

T to C

64.3

 

Yes

1

0.23

1

0.2

1393

G to A

28.6

↑A-U

Yes

2

0.45

0

0

1413

T to C

78.6

↑C-G

Yes

1

0.23

0

0

1442

G to A

42.9

 

Yes

1

0.23

0

0

1462

G to A

50.0

 

Yes

1

0.23

0

0

1494

C to T

78.6

↑U-A

Yes

2

0.45

0

0

1503

G to A

50.0

↑A-U

Yes

1

0.23

0

0

1541

T to C

78.6

 

Yes

6

1.36

4

0.9

1555

A to G

85.7

↑A-U

Yes

33

7.5

0

0

1598

G to A

50

 

Yes

12

2.72

9

2.0

  1. aThe conservation index (CI) was then defined as the percentage of the human nucleotide variants with other 14 primates that have the wild-type nucleotide at that position
  2. bClassic Watson-Crick (WC) base pair: created (↑) or abolished (↓).
  3. cSee Ruiz-Pesini E, Wallace DC (2006) and http://www.mitomap.org; http://www.genpat.uu.se/mtDB
  4. dKnown and putative pathogenic variants are indicated in boldface.