Inherited Peripheral Neuropathies Mutation Database

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IPN Mutations

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Mutations in GJB1 (Cx32)

Name c.43C>T
Alias Arg15Trp
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 -

Nelis et al., 1996
Janssen et al., 1997
Wicklein et al., 1997
Harvey, 1998
Panas et al., 1998
Senderek et al., 1998
Sorour et al., 1998
Guttierrez et al., 2000
Boerkoel et al., 2002
References

Genomic cDNA Protein
Observed c.43C>T
Deduced c.43C>T R15W
Region EX2 CDS N
Date Added: 01-May-99 ID: 114

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



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