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The Connexin-deafness homepage

 

Last Update: 19/09/2017

 

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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 Cx26

Polymorphism Name

Description

Frequence

Protein domain

Reference

Exon1 -493del10

del of 10bp at 493bp 5' of exon 1

not determined

5' UTR

Houseman et al 2001 other

-3558T to C

T to C at -3558

not determined

5' UTR

Shahin, Kanaan, PC

C/T at -15

C to T at -15

not determined

5'UTR

Zariwala et al PC

V27I

G to A at 79

not determined

TM1

Kelley et al 1998 other

I30I

T to A or C at 90

not determined

TM1

Zelante et al 1997 other

M34T

T to C at 101

1.72%

TM1

Feldmann et al 2003 other

A40A

A to C at 120

not described

EC1

Rabionet, unpublished

R127H

G to A at 380

not described

IC2

Estivill et al 1998 other

S72C

C to G at 215

not determined

EC1

Park et al 2000 other

Q80Q

G to A at 240

non described

TM2

Feng et al. 2002

F83L

C to G at 249

3/200 control chromosomes

TM2

Scott et al 1998b other

L89L

C to A at 267

not determined

TM2

Zelante et al 1997 other

R104R

A to C at 310

1 in 420 chromosomes

IC2

Meyer CG et al 2003 (PC)

E114G

A to G at 341

not determined

IC2

Fuse et al 1999 other

T123A

A to G at 367

not determined

IC2

Richard et al 1998

I128I

C to T at 384

1%

IC2

Zelante et al 1997 other

V153I

G to A at 457

4/367 controls (1%)

TM3

P Hilbert, PC

G160S

G to A at 468

2/200 control chromosomes

EC2

Scott et al 1998b other

C169Y

G to A at 506

not determined

EC2

Murgia et al PC

V182V

G to ? at 546

not determined

EC2

Scott et al 1998b other

V190V

C to T at 570

Non described

EC2

M. Hicks, PC

I203T

T to C at 608

not determined

TM4

Kudo et al 2000 other

C/T at 682

C or T at 682

not determined

3' UTR

Rabionet, unpublished

C/T at 765

C or T at 765

not determined

3' UTR

Rabionet, unpublished

Changes with unknown relation to disease
Mutation Name
Description
Frequence
Protein domain
Reference

IVS1-12C>T

C to T at -12 from exon 2

unknown

none

Roux AF, PC

N54I

A to T at 161

non described

EC1

Feng et al. 2002

H73R

A to G at 218

not determined

EC1

Zariwala et al PC

V84A

T to C at 251

not determined

TM2

Park et al 2000 other

S85Y

C to A at 254

non described

TM2

Dzhemileva et al 2003 other

R98Q

G to A at 293

not determined

IC2

Green et al 1999 other

313-314delAA

del of AA at 313

non described

IC2

Dzhemileva et al 2003 other

314delA

del of A at 314

non described

IC2

Dzhemileva et al 2003 other

360delG

del of G at 360

non described

IC2

Dzhemileva et al 2003 other

T123N

C to A at 368

not determined

IC2

Park et al 2000 other

R127C

C to T at 379

not determined

IC2

P Hilbert, PC

E129K

G to A at 385

not determined

IC2

Kenna et al 2001 other

Y155X

T to A at 465

not determined

TM3

Loffler et al, 2001 other

M163V

G to A at 487

1/192 NSHL chromosomes

EC2

Marlin et al 2001 other

A171T

G to A at 511

not described

EC2

Lin et al 2001 other

F191L

T to C at 571

non described

TM4

Feng et al. 2002

A197S

G to T at 589

1/730 affected chromosomes

TM4

Hamelmann et al 2001 other

K224Q

A to C at 670

not determined

IC3

Antoniadi et al 2000 other