Inherited Peripheral Neuropathies

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IPN Mutations

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last updated 17-Feb-11

Mutations in GJB1 (Cx32)

Name	c.43C>T
Alias	Arg15Trp
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	-

Nelis et al., 1996 Janssen et al., 1997 Wicklein et al., 1997 Harvey, 1998 Panas et al., 1998 Senderek et al., 1998 Sorour et al., 1998 Guttierrez et al., 2000 Boerkoel et al., 2002 References		Genomic	cDNA	Protein
	Observed	c.43C>T
	Deduced		c.43C>T	R15W
	Region	EX2	CDS	N
	Date Added: 01-May-99		ID: 114

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

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