Inherited Peripheral Neuropathies

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IPN Mutations

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last updated 17-Feb-11

Mutations in GJB1 (Cx32)

Name	c.396G>A
Alias	Trp132X
Description	Point mutation in coding region causing a stop mutation
Codon Change	From TGG to TGA
Phenotype	CMT1X
htz/hmz	hemizygous
Family History	-

Lin et al., 1999 References		Genomic	cDNA	Protein
	Observed	c.396G>A
	Deduced		c.396G>A	W132X
	Region	EX2	CDS	TM3
	Date Added: 28-Jun-01		ID: 494

Name	GJB1 deletion
Alias	Deletion of complete coding region
Description	Deletion of complete coding region
Codon Change	From - to -
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Ainsworth et al., 1998 Lin et al., 1999 Takashima et al., 2003 References		Genomic	cDNA	Protein
	Observed	Deletion of complete coding region
	Deduced		Deletion of complete coding region
	Region
	Date Added: 01-May-99		ID: 277

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