Inherited Peripheral Neuropathies

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IPN Mutations

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last updated 17-Feb-11

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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