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.187G>A
Alias	Val63Ile
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GTT to ATT
Phenotype	CMT1X (+ deafness)
htz/hmz	htz or hemizygous
Family History	-

Fairweather et al., 1994 Bone et al., 1997 Janssen et al., 1997 Haites et al., 1998 Matsuyama et al., 2001 Takashima et al., 2003 Casasnovas et al., 2006 References		Genomic	cDNA	Protein
	Observed	c.187G>A
	Deduced		c.187G>A	V63I
	Region	EX2	CDS	EC1
	Date Added: 01-May-99		ID: 153

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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