Inherited Peripheral Neuropathies

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IPN Mutations

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last updated 17-Feb-11

Mutations in GJB1 (Cx32)

Name	c.329G>A
Alias	Gly110Asp
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GGC to GAC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	XD

Kochanski et al., 2004 References		Genomic	cDNA	Protein
	Observed	c.329G>A
	Deduced		c.329G>A	G110D
	Region	EX2	CDS	IC
	Date Added: 13-May-04		ID: 408

Name	c.455T>A
Alias	Val152Asp
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GTC to GAC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	XD

Kochanski et al., 2004 References		Genomic	cDNA	Protein
	Observed	c.455T>A
	Deduced		c.455T>A	V152D
	Region	EX2	CDS	EC2
	Date Added: 13-May-04		ID: 409

Name	c.499A>G
Alias	Lys167Glu
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From AAG to GAG
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	XD

Kochanski et al., 2004 References		Genomic	cDNA	Protein
	Observed	c.499A>G
	Deduced		c.499A>G	K167E
	Region	EX2	CDS	EC2
	Date Added: 13-May-04		ID: 410

Name	c.548G>A
Alias	Arg183His
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CGC to CAC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	XD

Bone et al., 1997 Bort et al., 1997 Jianfeng et al., 1999 Mostacciuolo et al., 1999 Mersiyanova et al., 2000 Kochanski et al., 2004 Casasnovas et al., 2006 References		Genomic	cDNA	Protein
	Observed	c.548G>A
	Deduced		c.548G>A	R183H
	Region	EX2	CDS	EC2
	Date Added: 01-May-99		ID: 237

Name	c.622G>A
Alias	Glu208Lys
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GAG to AAG
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	XD

Fairweather et al., 1994 Haites et al., 1998 Hahn et al., 1999 Mersiyanova et al., 2000 Kochanski et al., 2004 Seeman, 2004 Song et al., 2006 References		Genomic	cDNA	Protein
	Observed	c.622G>A
	Deduced		c.622G>A	E208K
	Region	EX2	CDS	C
	Date Added: 01-May-99		ID: 258

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