[icona.jpg]

The Connexin-deafness homepage

 

Last Update: 23/11/2017

 

[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]

Aminoacid changes and polymorphisms in Cx31

Polymorphism Name

Description

Frequence

Protein domain

Reference

-553 del 2

del of AG at -553

0.29

exon 1

Lopez-Bigas et al 2000 other

-502 del 4

del of AAGT at -502

0.14

exon 1

Lopez-Bigas et al 2000 other

N119N

not described

0.3

IC2

Richard et al 2000 other

R32W

C to T at 93

0.173

TM1

Lopez-Bigas et al 2000 other

R32W

C to T at 93

0.004

TM1

Kelsell et al 2000 other

P159P

G to A at 476

not determined

TM3

Lopez-Bigas et al 2000 other

Y189Y

C to T at 566

not determined

EC2

Lopez-Bigas et al 2000 other

V200I

G to A at 597

not determined

TM4

Lopez-Bigas et al 2000 other

N266N

G to T at 798

0.1

IC4

Richard et al 2000 other

856 C/A

C or A at 856

.76 (C) ; .24 (A)

3' UTR

Richard et al 1998b other

866 G/A

G or A at 866

.66 (G); .34 (A)

3' UTR

Richard et al 1998b other

1931 C/T

C or T at 1931

.87 (C) ; .13 (T)

3' UTR

Lopez-Bigas et al 2000 other