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The Connexin-deafness homepage

 

Last Update: 23/11/2017

 

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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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Aminoacid changes and polymorphisms in Cx30

Polymorphism Name

Description

Frequence

Protein domain

Reference

A39A

T to C at 117

non described

TM1

Kelley et al, 1999 other

P58P

G at 174 into A

not described

EC1

Kelley et al, 1999 other

L132L

G to A at 396

not described

Gabriel et al, 2001 other

S139G

A to G at 415

not described

TM3

Kelley et al, 1999 other

L163L

G to A at 489

not described

EC2

Kelley et al, 1999 other

S199T

T to A at 595

non described

TM4

Kelley et al, 1999 other