Table 2 Missense changes in USH2A

c.373G > A

2

p.A125T

-

81

Dreyer et al., 2000

c.130G > A

2

p.G44R

+

1

Present Study

c.688G > A

4

p.V230M

-

3

Dreyer et al., 2000

c.908G > A

6

p.R303H^e

UV3

1

Yan et al., 2009

c.1144G > A

7

p.V382M ^b

UV3

1

Present Study

c.1434G > C

8

p.E478D

-

4

Seyedahmadi et al., 2004

c.1663C > G

10

p.L555V

-

2

Bernal et al., 2003

c.1931A > T

11

p.D644V

-

6

Weston et al., 2000

c.2137G > C

12

P.G713R

UV2

2

Dreyer et al., 2000

c.2276G > T

13

p.C759F

+

3

Dreyer et al., 2000

c.2522C > A

13

p.S841Y

UV2

1

Jaijo et al., 2009

c.4457G > A

21

p.R1486K

-

75

Dreyer et al., 2000

c.4714C > T

22

p.L1572F

-

7

Dreyer et al., 2008

c.4994T > C

25

p.I1665T

-

31

Kaiserman et al., 2007

c.5975A > G

30

p.Y1992C^e

UV3

1

McGee et al., 2010

c.6317T > C

32

p.I2106T

-

117

Aller et al., 2006

c.6506T > C

34

p.I2169T

-

85

Aller et al., 2006

c.6587G > C

34

p.S2196T

UV2

2

Jaijo et al., 2009

c.6713A > C

35

p.E2238A

-

1

Aller et al., 2006

c.6875G > A

36

p.R2292H

-

2

Dreyer et al., 2008

c.7130A > G

38

p.N2377S

UV2

1

Present Study

c.7182C > A

38

p.N2394K

UV2

1

Present Study

c.7506G > A

40

p.P2502P

-

11

Baux et al., 2008

c.7685T > C

41

p.V2562A

-

1

Dreyer et al., 2008

c.7915T > C

41

p.S2639P

UV2

3

McGee et al., 2010

c.8624G > A

43

p.R2875Q

-

9

Aller et al., 2006

c.8656C > T

43

p.L2886F

-

9

Aller et al., 2006

c.9262G > A

47

p.E3088K

-

1

Dreyer et al., 2008

c.9296A > G

47

p.N3099S

-

12

Aller et al., 2006

c.9343A > G

47

p.T3115A

-

9

Dreyer et al., 2008

c.9430G > A

48

p.D3144N

-

8

Aller et al., 2006

c.9595A > G

49

p.N3199D

-

9

Baux et al., 2007

c.9799T > C

50

p.C3267R

+

5

Aller et al., 2006

c.10073G > A

51

p.C3358Y

+

1

McGee et al., 2010

c.10232A > C

52

p.E3411A

-

94

Aller et al., 2006

c.10636G > A

54

p.G3546R

+

4

Present Study

c.11504C > T

59

p.T3835I

-

30

Present Study

c.11602A > G

60

p.M3868V

-

34

Aller et al., 2006

c.11677C > A

60

p.P3893T

-

2

Dreyer et al., 2008

c.11680A > G

60

p.N3894D

UV3

1

Present Study

c.12343C > T

63

p.R4115C

-

2

van Wijk et al., 2004

c.14074G > A

64

p.G4692R^c

UV2

1

McGee et al., 2010

c.14453C > T

66

p.P4818L

+

1

Aller et al., 2006

c.14513G > A

66

p.G4838E

-

1

McGee et al., 2010

c.14543G > A

66

p.R4848Q

-

1

McGee et al., 2010

c.14761G > A

67

p.E4921K

UV2

1

Present Study

c.15076A > G

70

p.K5026E

UV2

1

McGee et al., 2010

c.15091C > T

70

p.R5031W

-

2

Dreyer et al., 2008