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The Connexin-deafness homepage

 

Last Update: 19/04/2019

 

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  Introduction
  Connexins and deafness
     - GJB2 (Cx26)
     - GJB3 (Cx31)
     - GJB6 (Cx30)
     - GJB1 (Cx32)
  Mutations databases
     - Nonsyndromic deafness           mutations
     - Syndromic deafness           mutations
     - Frequent mutations
     - Other disease mutations
     - Big deletions or           insertions
  Polymorphisms
     - GJB2 (Cx26)
     - GJB3 (Cx31)
     - GJB6 (Cx30)
  Search engine
  Submit a new mutation
  Reference list
  Links
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Syndromic deafness mutations in GJB2

Dominant mutations

Mutation Name

Description

Effect

Protein domain

Reference

G12R

G to C at 34

Gly at 12 into Arg

IC1

Richard et al. 2002 other

S17F

C to T at 50

Ser at 17 into Phe

IC1

Richard et al. 2002 other

D50N

G to A at 148

Asp at 50 into Gln

EC1

Richard et al. 2002 other

N54K

not described

Asn at 54 into Lys

EC1

Richard et al 2001 other

G59A

C to G at 176

Glu at 59 into Arg

EC1

Heathcote et al 2000 other

D66H

G to C at 196

Asp at 66 into His

EC1

Maestrini et al 1999 other

R75W

C to T at 223

Arg at 75 into Trp

EC1

Richard et al 1998a other

R75Q

G to A at 224

Arg at 75 into Gln

EC1

Uyguner et al. 2002 other

Recessive mutations
Mutation Name
Description
Effect
Protein domain
Reference
There are no recessive mutations