Inherited Peripheral Neuropathies

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IPN Mutations

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last updated 17-Feb-11

Mutations in HSPB8

Name	c.421A>G
Alias	Lys141Glu
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From AAG to GAG
Phenotype	dHMN II
htz/hmz	htz
Family History	AD

Irobi et al., 2004 References		Genomic	cDNA	Protein
	Observed	c.421A>G
	Deduced		c.421A>G	K141E
	Region	EX2	CDS	alpha-crystallin
	Date Added: 03-May-04		ID: 405

Name	c.423G>C
Alias	Lys141Asn
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From AAG to AAC
Phenotype	dHMN II
htz/hmz	htz
Family History	AD

Irobi et al., 2004 References		Genomic	cDNA	Protein
	Observed	c.423G>C
	Deduced		c.423G>C	K141N
	Region	EX2	CDS	alpha-crystallin
	Date Added: 03-May-04		ID: 406

Name	c.423G>T
Alias	Lys141Asn
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From to
Phenotype	CMT2
htz/hmz	htz
Family History	AD

Tang et al., 2005 References		Genomic	cDNA	Protein
	Observed	c.423G>T
	Deduced		c.423G>T	K141N
	Region	EX2	CDS	alpha-crystallin
	Date Added: 20-Jun-05		ID: 745

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