[icona.jpg]

The Connexin-deafness homepage

 

Last Update: 25/06/2019

 

[separador]
  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
[separador]

Mutations in GJB2 in patients with non-syndromic deafness

Note: since it would be of interest to keep a consensus on the name of the mutations in GJB2, we propose that all new mutations are named following the nomenclature recommendations (Antonarakis and the nomenclature working group (1998)), which indicate that in the case of a deletion or an insertion in a repeated sequence, the most 3' position should be adopted.


Dominant mutations

Mutation Name

Description

Effect

Protein domain

Reference