Inherited Peripheral Neuropathies

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IPN Mutations

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last updated 17-Feb-11

Mutations in GJB1 (Cx32)

Name	c.34G>A
Alias	Gly12Ser
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GGC to AGC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	XD

Bergoffen et al., 1993 References		Genomic	cDNA	Protein
	Observed	c.34G>A
	Deduced		c.34G>A	G12S
	Region	EX2	CDS	N
	Date Added: 01-May-99		ID: 109

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.424C>T
Alias	Arg142Trp
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CGG to TGG
Phenotype	CMT1X (+ CNS involvement)
htz/hmz	htz or hemizygous
Family History	-

Bergoffen et al., 1993 Ionasescu et al., 1996 Nelis et al., 1996 Latour et al., 1997 Ionasescu et al., 1999 Williams et al., 1999 Mersiyanova et al., 2000 Young et al., 2001 Paulson et al., 2002 Hattori et al., 2003 Basri et al., 2007 References		Genomic	cDNA	Protein
	Observed	c.424C>T
	Deduced		c.424C>T	R142W
	Region	EX2	CDS	TM3
	Date Added: 01-May-99		ID: 206

Name	c.467T>G
Alias	Leu156Arg
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CTC to CGC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bergoffen et al., 1993 Bone et al., 1995 References		Genomic	cDNA	Protein
	Observed	c.467T>G
	Deduced		c.467T>G	L156R
	Region	EX2	CDS	EC2
	Date Added: 01-May-99		ID: 213

Name	c.514C>T
Alias	Pro172Ser
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CCC to TCC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bergoffen et al., 1993 References		Genomic	cDNA	Protein
	Observed	c.514C>T
	Deduced		c.514C>T	P172S
	Region	EX2	CDS	EC2
	Date Added: 01-May-99		ID: 225

Name	c.524_525insA
Alias	Asn175fs
Description	Insertion in coding region causing a frameshift and a stop at codon 242
Codon Change	From - to -
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bergoffen et al., 1993 References		Genomic	cDNA	Protein
	Observed	c.524_525insA
	Deduced		c.524_525insA	N175fsX242
	Region	EX2	CDS	EC2
	Date Added: 01-May-99		ID: 228

Name	c.556G>A
Alias	Glu186Lys
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GAG to AAG
Phenotype	CMT1X (+ deafness)
htz/hmz	htz or hemizygous
Family History	XD

Bergoffen et al., 1993 Latour et al., 1997 Haites et al., 1998 Harvey, 1998 Mersiyanova et al., 2000 Dubourg et al., 2001 Matsuyama et al., 2001 Takashima et al., 2003 Seeman, 2004 References		Genomic	cDNA	Protein
	Observed	c.556G>A
	Deduced		c.556G>A	E186K
	Region	EX2	CDS	EC2
	Date Added: 01-May-99		ID: 241

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