Inherited Peripheral Neuropathies

IPN Mutations

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last updated 17-Feb-11

Mutations in EGR2

Name	c.1075C>T
Alias	Arg359Trp
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CGG to TGG
Phenotype	DSS (plus cranial nerve involvement)/CMT1
htz/hmz	htz
Family History	de novo

Taroni et al., 1999 Timmerman et al., 1999 Boerkoel et al., 2001 Choi et al., 2004 Chung et al., 2005 References		Genomic	cDNA	Protein
	Observed	c.1075C>T
	Deduced		c.1075C>T	R359W
	Region	EX2	CDS	Zn1
	Date Added: 01-May-99		ID: 282

Name	c.1086A>C
Alias	Arg362Arg
Description	Point mutation in coding region causing a silent mutation
Codon Change	From CGA to CGC
Phenotype	- (polymorphism)
htz/hmz	htz
Family History	-

Timmerman et al., 1999 Choi et al., 2004 References		Genomic	cDNA	Protein
	Observed	c.1086A>C
	Deduced		c.1086A>C	R362R
	Region	EX2	CDS	Zn1
	Date Added: 01-May-99		ID: 286

Mutations in GJB1 (Cx32)

Name	c.30C>T
Alias	Leu10Leu
Description	Point mutation in coding region causing a silent mutation
Codon Change	From CTC to CTT
Phenotype	- (polymorphism)
htz/hmz	-
Family History	-

Numakura et al., 2002 Choi et al., 2004 References		Genomic	cDNA	Protein
	Observed	c.30C>T
	Deduced		c.30C>T	L10L
	Region	EX2	CDS	N
	Date Added: 04-Feb-03		ID: 628

Name	c.491G>A
Alias	Arg164Gln
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CGG to CAG
Phenotype	CMT1X (+ CNS involvement), CMT2
htz/hmz	htz or hemizygous
Family History	familial

Bone et al., 1997 Bort et al., 1997 Panas et al., 1998 Jianfeng et al., 1999 Mersiyanova et al., 2000 Yoshihara et al., 2000 Dubourg et al., 2001 Huehne et al., 2003 Choi et al., 2004 Seeman, 2004 Casasnovas et al., 2006 References		Genomic	cDNA	Protein
	Observed	c.491G>A
	Deduced		c.491G>A	R164Q
	Region	EX2	CDS	EC2
	Date Added: 01-May-99		ID: 222

Name	c.502T>C
Alias	Cys168Arg
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TGC to CGC
Phenotype	CMT1
htz/hmz	htz or hemizygous
Family History	XD

Choi et al., 2004 References		Genomic	cDNA	Protein
	Observed	c.502T>C
	Deduced		c.502T>C	C168R
	Region	EX2	CDS	EC2
	Date Added: 24-Mar-05		ID: 726

Name	c.594T>A
Alias	Ser198Ser
Description	Point mutation in coding region causing a silent mutation
Codon Change	From TCT to TCA
Phenotype	- (polymorphism)
htz/hmz	-
Family History	-

Choi et al., 2004 References		Genomic	cDNA	Protein
	Observed	c.594T>A
	Deduced		c.594T>A	S198S
	Region	EX2	CDS	TM4
	Date Added: 24-Mar-05		ID: 727

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.352G>A
Alias	Asp118Asn
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GAC to AAC
Phenotype	CMT2
htz/hmz	htz
Family History	D

Choi et al., 2004 References		Genomic	cDNA	Protein
	Observed	c.352G>A
	Deduced		c.352G>A	D118N
	Region	EX3	CDS	EC
	Date Added: 24-Mar-05		ID: 722

Name	c.449-1G>T
Alias	3' splice site
Description	Splice site mutation
Codon Change	From - to -
Phenotype	CMT1
htz/hmz	htz
Family History	D

Choi et al., 2004 Song et al., 2006 References		Genomic	cDNA	Protein
	Observed	c.449-1G>T
	Deduced
	Region	IN3
	Date Added: 24-Mar-05		ID: 723

Name	c.706A>G
Alias	Lys236Glu
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From AAG to GAG
Phenotype	CMT2
htz/hmz	htz
Family History	isolated

Choi et al., 2004 References		Genomic	cDNA	Protein
	Observed	c.706A>G
	Deduced		c.706A>G	K236E
	Region	EX6	CDS	IC
	Date Added: 24-Mar-05		ID: 724

Mutations in NEFL

Name	c.279G>A
Alias	Gln93Gln
Description	Point mutation in coding region causing a silent mutation
Codon Change	From CAG to CAA
Phenotype	- (polymorphism)
htz/hmz	-
Family History	-

Yoshihara et al., 2002 Choi et al., 2004 References		Genomic	cDNA	Protein
	Observed	c.279G>A
	Deduced		c.279G>A	Q93Q
	Region	EX1	CDS	1a
	Date Added: 04-Feb-03		ID: 592

Name	c.998T>C
Alias	Leu333Pro
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CTG to CCG
Phenotype	CMT2
htz/hmz	htz
Family History	isolated

Choi et al., 2004 References		Genomic	cDNA	Protein
	Observed	c.998T>C
	Deduced		c.998T>C	L333P
	Region	EX1	CDS	Rod
	Date Added: 24-Mar-05		ID: 728

Name	c.1186G>A
Alias	Glu396Lys
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GAG to AAG
Phenotype	CMT1 / CMT2
htz/hmz	htz
Family History	AD

Choi et al., 2004 Züchner et al., 2004 References		Genomic	cDNA	Protein
	Observed	c.1186G>A
	Deduced		c.1186G>A	E396K
	Region	EX3	CDS	rod
	Date Added: 17-May-04		ID: 417

Mutations in PMP22

Name	c.318delT
Alias	Ala106fs
Description	Deletion in coding region causing a frameshift and a stop at codon 110
Codon Change	From - to -
Phenotype	CMT1
htz/hmz	htz
Family History	D

Choi et al., 2004 References		Genomic	cDNA	Protein
	Observed	c.318delT
	Deduced		c.318delT	A106fsX110
	Region	EX4	CDS	TM3
	Date Added: 24-Mar-05		ID: 721