Inherited Peripheral Neuropathies

IPN Mutations

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last updated 17-Feb-11

Mutations in GJB1 (Cx32)

Name	c.[65G>A;187G>A]
Alias	[Arg22Gln;Val63Ile]
Description	Double point mutation in coding region causing a double amino acid substitution
Codon Change	From [CGA; GTT] to [CAA; ATT]
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Silander et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.[65G>A; 187G>A]
	Deduced		c.[65G>A; 187G>A]	[R22Q; V63I]
	Region	EX2	CDS	TM1;EC1
	Date Added: 01-May-99		ID: 122

Name	c.173C>G
Alias	Pro58Arg
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CCT to CGT
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Silander et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.173C>G
	Deduced		c.173C>G	P58R
	Region	EX2	CDS	EC1
	Date Added: 01-May-99		ID: 150

Name	c.515C>T
Alias	Pro172Leu
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CCC to CTC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1997 Ikegami et al., 1998 Silander et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.515C>T
	Deduced		c.515C>T	P172L
	Region	EX2	CDS	EC2
	Date Added: 01-May-99		ID: 224

Name	c.523A>G
Alias	Asn175Asp
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From AAC to GAC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Silander et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.523A>G
	Deduced		c.523A>G	N175D
	Region	EX2	CDS	EC2
	Date Added: 01-May-99		ID: 227

Name	c.610C>T
Alias	Leu204Phe
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CTC to TTC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Silander et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.610C>T
	Deduced		c.610C>T	L204F
	Region	EX2	CDS	TM4
	Date Added: 01-May-99		ID: 256

Mutations in MPZ (P0)

For historical reason, the name of the mutation is based on the MPZ sequence D10537 (http://www.ncbi.nlm.nih.gov/entrez/) as published by Hayasaka et al., Biochem. Biophys. Res. Commun. 180, 515-518 (1991), and not the MPZ RefSeq NM_000530 ( http://www.ncbi.nlm.nih.gov/entrez/). In the first sequence the translation initiation codon is 30 nucleotides downstream of the one in the Refseq. The corresponding protein sequence is 10 amino acids shorter than the protein sequence derived from the MPZ RefSeq. However, the RefSeq record for MPZ has been updated on 03 May 2010 to now encode the 248 amino acid protein referred as NM_000530.6. The RefSeq NM_000530.6 should be considered when referring to MPZ mutations at the protein level.

Name	c.233C>T
Alias	Ser78Leu
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TCG to TTG
Phenotype	CMT1-severe (focally folded myelin)
htz/hmz	htz
Family History	AD

Nelis et al., 1994 Latour et al., 1995 Bort et al., 1997 Haites et al., 1998 Silander et al., 1998 Fabrizi et al., 2000 Young et al., 2001 Boerkoel et al., 2002 Huehne et al., 2003 References		Genomic	cDNA	Protein
	Observed	c.233C>T
	Deduced		c.233C>T	S78L
	Region	EX2	CDS	EC
	Date Added: 01-May-99		ID: 52

Name	c.245A>G
Alias	Tyr82Cys
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TAT to TGT
Phenotype	CMT1 / DSS
htz/hmz	htz
Family History	AD

Himoro et al., 1993 Mitsui et al., 1994 Haites et al., 1998 Silander et al., 1998 Boerkoel et al., 2002 Numakura et al., 2002 References		Genomic	cDNA	Protein
	Observed	c.245A>G
	Deduced		c.245A>G	Y82C
	Region	EX3	CDS	EC
	Date Added: 01-May-99		ID: 54

Mutations in PMP22

Name	c.251_253delTCT
Alias	Phe84del
Description	Deletion in coding region causing an amino acid deletion
Codon Change	From - to -
Phenotype	DSS (with multiple cranial involvement)
htz/hmz	htz
Family History	-

Silander et al., 1998 Yener et al., 2001 References		Genomic	cDNA	Protein
	Observed	c.251_253delTCT
	Deduced		c.251_253delTCT	F84del
	Region	EX4	CDS	TM2
	Date Added: 01-May-99		ID: 19

Inherited Peripheral Neuropathies Mutation Database

IPN Mutations

Mutations in GJB1 (Cx32)

Mutations in MPZ (P0)

Mutations in PMP22