Inherited Peripheral Neuropathies

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IPN Mutations

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last updated 17-Feb-11

Mutations in GJB1 (Cx32)

Name	c.64C>T
Alias	Arg22X
Description	Point mutation in coding region causing a stop mutation
Codon Change	From CGA to TGA
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Ionasescu et al., 1996 Ressot et al., 1996 Janssen et al., 1997 Rouger et al., 1997 Haites et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.64C>T
	Deduced		c.64C>T	R22X
	Region	EX2	CDS	TM1
	Date Added: 01-May-99		ID: 121

Name	c.101T>C
Alias	Met34Thr
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From ATG to ACG
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Tan et al., 1996 Rouger et al., 1997 Nicholson et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.101T>C
	Deduced		c.101T>C	M34T
	Region	EX2	CDS	TM1
	Date Added: 01-May-99		ID: 132

Name	c.250G>A
Alias	Val84Ile
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GTT to ATT
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Rouger et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.250G>A
	Deduced		c.250G>A	V84I
	Region	EX2	CDS	TM2
	Date Added: 01-May-99		ID: 168

Name	c.283G>A
Alias	Val95Met
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	XD

Bone et al., 1995 Bone et al., 1997 Rouger et al., 1997 Haites et al., 1998 Ionasescu et al., 1998 Hahn et al., 1999 Park et al., 2006 References		Genomic	cDNA	Protein
	Observed	c.283G>A
	Deduced		c.283G>A	V95M
	Region	EX2	CDS	IC
	Date Added: 01-May-99		ID: 184

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.397T>C
Alias	Trp133Arg
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TGG to CGG
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1995 Latour et al., 1997 Rouger et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.397T>C
	Deduced		c.397T>C	W133R
	Region	EX2	CDS	TM3
	Date Added: 01-May-99		ID: 199

Name	c.423C>G
Alias	Phe141Leu
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TTC to TTG
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Rouger et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.423C>G
	Deduced		c.423C>G	F141L
	Region	EX2	CDS	TM3
	Date Added: 01-May-99		ID: 205

Name	c.472C>G
Alias	Pro158Ala
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CCT to GCT
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Cherryson et al., 1994 Rouger et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.472C>G
	Deduced		c.472C>G	P158A
	Region	EX2	CDS	EC2
	Date Added: 01-May-99		ID: 216

Name	c.608T>A
Alias	Ile203Asn
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From ATC to AAC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Rouger et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.608T>A
	Deduced		c.608T>A	I203N
	Region	EX2	CDS	TM4
	Date Added: 01-May-99		ID: 254

Name	c.614A>G
Alias	Asn205Ser
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From AAT to AGT
Phenotype	CMT1X (+ CNS involvement)
htz/hmz	htz or hemizygous
Family History	familial

Bone et al., 1997 Rouger et al., 1997 Sorour et al., 1998 Bähr et al., 1999 Huehne et al., 2003 References		Genomic	cDNA	Protein
	Observed	c.614A>G
	Deduced		c.614A>G	N205S
	Region	EX2	CDS	TM4
	Date Added: 01-May-99		ID: 257

Name	c.637_640delATCAinsC
Alias	Ile213_Ile214delinsLeu
Description	Deletion and insertion in coding region causing deletion of 2 amino acids and insertion of 1 amino acid
Codon Change	From - to -
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Rouger et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.[637_640delATCAinsC]
	Deduced		c.[637_640delATCAinsC]	I213_I214delinsL
	Region	EX2	CDS	C
	Date Added: 01-May-99		ID: 260

Name	c.658C>T
Alias	Arg220X
Description	Point mutation in coding region causing a stop mutation
Codon Change	From CGA to TGA
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	D

Fairweather et al., 1994 Bone et al., 1995 Ionasescu et al., 1996 Niewiadomski et al., 1996 Wolfe et al., 1996 Rouger et al., 1997 Williams et al., 1999 References		Genomic	cDNA	Protein
	Observed	c.658C>T
	Deduced		c.658C>T	R220X
	Region	EX2	CDS	C
	Date Added: 01-May-99		ID: 266

Name
Alias	Complex rearrangement
Description	Complex rearrangement
Codon Change	From - to -
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Rouger et al., 1997 References		Genomic	cDNA	Protein
	Observed	Complex rearrangement
	Deduced		Complex rearrangement
	Region	EX2	CDS
	Date Added: 01-May-99		ID: 276

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