Inherited Peripheral Neuropathies Mutation Database

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IPN Mutations

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Mutations in GJB1 (Cx32)

Name c.65G>A
Alias Arg22Gln
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CGA to CAA
Phenotype CMT1X
htz/hmz htz or hemizygous
Family History -

Ionasescu et al., 1996
Nelis et al., 1996
Bone et al., 1997
Silander et al., 1997
Haites et al., 1998
Senderek et al., 1998
Williams et al., 1999
Dubourg et al., 2001
Matsuyama et al., 2001
Boerkoel et al., 2002
Takashima et al., 2003
References

Genomic cDNA Protein
Observed c.65G>A
Deduced c.65G>A R22Q
Region EX2 CDS TM1
Date Added: 01-May-99 ID: 118

Name c.223C>T
Alias Arg75Trp
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CGG to TGG
Phenotype CMT1X / CMT2 (+CNS involvement)
htz/hmz htz or hemizygous
Family History -

Bone et al., 1997
Latour et al., 1997
Silander et al., 1997
Numakura et al., 2002
Taylor et al., 2003
Casasnovas et al., 2006
References

Genomic cDNA Protein
Observed c.223C>T
Deduced c.223C>T R75W
Region EX2 CDS TM2
Date Added: 01-May-99 ID: 161

Name c.224G>A
Alias Arg75Gln
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CGG to CAG
Phenotype CMT1X
htz/hmz htz or hemizygous
Family History D

Tan et al., 1996
Silander et al., 1997
Haites et al., 1998
Bienfait et al., 1999
Mostacciuolo et al., 1999
Numakura et al., 2002
References

Genomic cDNA Protein
Observed c.224G>A
Deduced c.224G>A R75Q
Region EX2 CDS TM2
Date Added: 01-May-99 ID: 159

Name c.319C>T
Alias Arg107Trp
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CGG to TGG
Phenotype CMT1X
htz/hmz htz or hemizygous
Family History D

Tan et al., 1996
Bone et al., 1997
Latour et al., 1997
Rouger et al., 1997
Silander et al., 1997
Haites et al., 1998
Mersiyanova et al., 2000
References

Genomic cDNA Protein
Observed c.319C>T
Deduced c.319C>T R107W
Region EX2 CDS IC
Date Added: 01-May-99 ID: 191

Name c.415G>A
Alias Val139Met
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GTG to ATG
Phenotype CMT1X
htz/hmz htz or hemizygous
Family History -

Bergoffen et al., 1993
Bone et al., 1995
Nelis et al., 1996
Janssen et al., 1997
Silander et al., 1997
Haites et al., 1998
Hahn et al., 1999
Williams et al., 1999
Numakura et al., 2002
References

Genomic cDNA Protein
Observed c.415G>A
Deduced c.415G>A V139M
Region EX2 CDS TM3
Date Added: 01-May-99 ID: 204

Name c.580A>G
Alias Met194Val
Description Point mutation in coding region causing an amino acid substitution
Codon Change From ATG to GTG
Phenotype CMT1X
htz/hmz htz or hemizygous
Family History -

Silander et al., 1997
References

Genomic cDNA Protein
Observed c.580A>G
Deduced c.580A>G M194V
Region EX2 CDS TM4
Date Added: 01-May-99 ID: 250



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