Inherited Peripheral Neuropathies

IPN Mutations

Lookup Mutations

By Gene By Mutation Type By Phenotype By Publication

Newest Entries Submit Mutation Table Legend

last updated 17-Feb-11

Mutations in GJB1 (Cx32)

Name	c.22A>C
Alias	Thr8Pro
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From ACC to CCC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Haites et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.22A>C
	Deduced		c.22A>C	T8P
	Region	EX2	CDS	N
	Date Added: 01-May-99		ID: 107

Name	c.31A>G
Alias	Ser11Gly
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From AGT to GGT
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Haites et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.31A>G
	Deduced		c.31A>G	S11G
	Region	EX2	CDS	N
	Date Added: 01-May-99		ID: 108

Name	c.44G>A
Alias	Arg15Gln
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CGG to CAG
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Fairweather et al., 1994 Haites et al., 1998 Hahn et al., 1999 Jianfeng et al., 1999 References		Genomic	cDNA	Protein
	Observed	c.44G>A
	Deduced		c.44G>A	R15Q
	Region	EX2	CDS	N
	Date Added: 01-May-99		ID: 113

Name	c.64C>T
Alias	Arg22X
Description	Point mutation in coding region causing a stop mutation
Codon Change	From CGA to TGA
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Ionasescu et al., 1996 Ressot et al., 1996 Janssen et al., 1997 Rouger et al., 1997 Haites et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.64C>T
	Deduced		c.64C>T	R22X
	Region	EX2	CDS	TM1
	Date Added: 01-May-99		ID: 121

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

Name	c.77C>A
Alias	Ser26X
Description	Point mutation in coding region causing a stop mutation
Codon Change	From TCG to TAG
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Haites et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.77C>A
	Deduced		c.77C>A	S26X
	Region	EX2	CDS	TM1
	Date Added: 01-May-99		ID: 126

Name	c.77C>T
Alias	Ser26Leu
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TCG to TTG
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	XD

Ohnishi et al., 1995 Yoshimura et al., 1996 Bone et al., 1997 Nelis et al., 1997 Oh et al., 1997 Haites et al., 1998 Hahn et al., 1999 References		Genomic	cDNA	Protein
	Observed	c.77C>T
	Deduced		c.77C>T	S26L
	Region	EX2	CDS	TM1
	Date Added: 01-May-99		ID: 125

Name	c.89T>A
Alias	Ile30Asn
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From ATC to AAC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1995 Haites et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.89T>A
	Deduced		c.89T>A	I30N
	Region	EX2	CDS	TM1
	Date Added: 01-May-99		ID: 131

Name	c.94_95insTCTTCA
Alias	Phe31_Arg32insIlePhe
Description	Insertion in coding region causing two amino acids insertion
Codon Change	From - to -
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Haites et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.94_95insTCTTCA
	Deduced		c.94_95insTCTTCA	F31_R32insIF
	Region	EX2	CDS	TM1
	Date Added: 01-May-99		ID: 129

Name	c.115G>C
Alias	Ala39Pro
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GCT to CCT
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Haites et al., 1998 Ekici et al., 2000 References		Genomic	cDNA	Protein
	Observed	c.115G>C
	Deduced		c.115G>C	A39P
	Region	EX2	CDS	TM1
	Date Added: 01-May-99		ID: 137

Name	c.116C>T
Alias	Ala39Val
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GCT to GTT
Phenotype	CMT1X (+ CNS involvement)
htz/hmz	htz or hemizygous
Family History	D

Haites et al., 1998 Marques Jr et al., 1998 Senderek et al., 1999 Williams et al., 1999 References		Genomic	cDNA	Protein
	Observed	c.116C>T
	Deduced		c.116C>T	A39V
	Region	EX2	CDS	TM1
	Date Added: 01-May-99		ID: 138

Name	c.127G>A
Alias	Val43Met
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GTG to ATG
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Haites et al., 1998 Williams et al., 1999 Bergmann, 2002 References		Genomic	cDNA	Protein
	Observed	c.127G>A
	Deduced		c.127G>A	V43M
	Region	EX2	CDS	EC1
	Date Added: 01-May-99		ID: 142

Name	c.175G>T
Alias	Gly59Cys
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GGC to TGC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Haites et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.175G>T
	Deduced		c.175G>T	G59C
	Region	EX2	CDS	EC1
	Date Added: 01-May-99		ID: 151

Name	c.179G>T
Alias	Cys60Phe
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TGC to TTC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Fairweather et al., 1994 Haites et al., 1998 Sorour et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.179G>T
	Deduced		c.179G>T	C60F
	Region	EX2	CDS	EC1
	Date Added: 01-May-99		ID: 152

Name	c.187G>A
Alias	Val63Ile
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GTT to ATT
Phenotype	CMT1X (+ deafness)
htz/hmz	htz or hemizygous
Family History	-

Fairweather et al., 1994 Bone et al., 1997 Janssen et al., 1997 Haites et al., 1998 Matsuyama et al., 2001 Takashima et al., 2003 Casasnovas et al., 2006 References		Genomic	cDNA	Protein
	Observed	c.187G>A
	Deduced		c.187G>A	V63I
	Region	EX2	CDS	EC1
	Date Added: 01-May-99		ID: 153

Name	c.196_198delGAC
Alias	Asp66del
Description	Deletion in coding region causing an amino acid deletion
Codon Change	From - to -
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Haites et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.196_198delGAC
	Deduced		c.196_198delGAC	D66del
	Region	EX2	CDS	EC1
	Date Added: 01-May-99		ID: 156

Name	c.210_211insC
Alias	Ile71fs
Description	Insertion in coding region causing a frameshift and a stop at codon 109
Codon Change	From - to -
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Haites et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.210_211insC
	Deduced		c.210_211insC	I71fsX109
	Region	EX2	CDS	EC1
	Date Added: 01-May-99		ID: 157

Name	c.224G>A
Alias	Arg75Gln
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CGG to CAG
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	D

Tan et al., 1996 Silander et al., 1997 Haites et al., 1998 Bienfait et al., 1999 Mostacciuolo et al., 1999 Numakura et al., 2002 References		Genomic	cDNA	Protein
	Observed	c.224G>A
	Deduced		c.224G>A	R75Q
	Region	EX2	CDS	TM2
	Date Added: 01-May-99		ID: 159

Name	c.241C>T
Alias	Leu81Phe
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	-

Haites et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.241C>T
	Deduced		c.241C>T	L81F
	Region	EX2	CDS	TM2
	Date Added: 01-May-99		ID: 166

Name	c.248T>C
Alias	Leu83Pro
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CTA to CCA
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Haites et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.248T>C
	Deduced		c.248T>C	L83P
	Region	EX2	CDS	TM2
	Date Added: 01-May-99		ID: 167

Name	c.283G>A
Alias	Val95Met
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GTG to ATG
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	XD

Bone et al., 1995 Bone et al., 1997 Rouger et al., 1997 Haites et al., 1998 Ionasescu et al., 1998 Hahn et al., 1999 Park et al., 2006 References		Genomic	cDNA	Protein
	Observed	c.283G>A
	Deduced		c.283G>A	V95M
	Region	EX2	CDS	IC
	Date Added: 01-May-99		ID: 184

Name	c.313delA
Alias	Met105fs
Description	Deletion in coding region causing a frameshift and a stop at codon 120
Codon Change	From - to -
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Haites et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.313delA
	Deduced		c.313delA	M105fsX120
	Region	EX2	CDS	IC
	Date Added: 01-May-99		ID: 190

Name	c.319C>T
Alias	Arg107Trp
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	D

Tan et al., 1996 Bone et al., 1997 Latour et al., 1997 Rouger et al., 1997 Silander et al., 1997 Haites et al., 1998 Mersiyanova et al., 2000 References		Genomic	cDNA	Protein
	Observed	c.319C>T
	Deduced		c.319C>T	R107W
	Region	EX2	CDS	IC
	Date Added: 01-May-99		ID: 191

Name	c.394_395delTG
Alias	Trp132fs
Description	Deletion in coding region causing a frameshift and a stop at codon 145
Codon Change	From - to -
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Haites et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.394_395delTG
	Deduced		c.394_395delTG	W132fsX145
	Region	EX2	CDS	TM3
	Date Added: 01-May-99		ID: 198

Name	c.404A>G
Alias	Tyr135Cys
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TAT to TGT
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Haites et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.404A>G
	Deduced		c.404A>G	Y135C
	Region	EX2	CDS	TM3
	Date Added: 01-May-99		ID: 202

Name	c.415G>A
Alias	Val139Met
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GTG to ATG
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bergoffen et al., 1993 Bone et al., 1995 Nelis et al., 1996 Janssen et al., 1997 Silander et al., 1997 Haites et al., 1998 Hahn et al., 1999 Williams et al., 1999 Numakura et al., 2002 References		Genomic	cDNA	Protein
	Observed	c.415G>A
	Deduced		c.415G>A	V139M
	Region	EX2	CDS	TM3
	Date Added: 01-May-99		ID: 204

Name	c.445T>A
Alias	Phe149Ile
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TTC to ATC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Haites et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.445T>A
	Deduced		c.445T>A	F149I
	Region	EX2	CDS	TM3
	Date Added: 01-May-99		ID: 210

Name	c.472C>T
Alias	Pro158Ser
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CCT to TCT
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Haites et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.472C>T
	Deduced		c.472C>T	P158S
	Region	EX2	CDS	EC2
	Date Added: 01-May-99		ID: 218

Name	c.490C>T
Alias	Arg164Trp
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CGG to TGG
Phenotype	CMT1X (+ transient CNS involvement)
htz/hmz	htz or hemizygous
Family History	XD

Ionasescu et al., 1996 Oterino et al., 1996 Bort et al., 1997 Haites et al., 1998 Mostacciuolo et al., 1999 Dubourg et al., 2001 Young et al., 2001 Schelhaas et al., 2002 Casasnovas et al., 2006 References		Genomic	cDNA	Protein
	Observed	c.490C>T
	Deduced		c.490C>T	R164W
	Region	EX2	CDS	EC2
	Date Added: 01-May-99		ID: 223

Name	c.517T>C
Alias	Cys173Arg
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TGC to CGC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Haites et al., 1998 Ginsberg et al., 2004 References		Genomic	cDNA	Protein
	Observed	c.517T>C
	Deduced		c.517T>C	C173R
	Region	EX2	CDS	EC2
	Date Added: 01-May-99		ID: 226

Name	c.556G>A
Alias	Glu186Lys
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GAG to AAG
Phenotype	CMT1X (+ deafness)
htz/hmz	htz or hemizygous
Family History	XD

Bergoffen et al., 1993 Latour et al., 1997 Haites et al., 1998 Harvey, 1998 Mersiyanova et al., 2000 Dubourg et al., 2001 Matsuyama et al., 2001 Takashima et al., 2003 Seeman, 2004 References		Genomic	cDNA	Protein
	Observed	c.556G>A
	Deduced		c.556G>A	E186K
	Region	EX2	CDS	EC2
	Date Added: 01-May-99		ID: 241

Name	c.622G>A
Alias	Glu208Lys
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GAG to AAG
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	XD

Fairweather et al., 1994 Haites et al., 1998 Hahn et al., 1999 Mersiyanova et al., 2000 Kochanski et al., 2004 Seeman, 2004 Song et al., 2006 References		Genomic	cDNA	Protein
	Observed	c.622G>A
	Deduced		c.622G>A	E208K
	Region	EX2	CDS	C
	Date Added: 01-May-99		ID: 258

Name	c.761_762insA
Alias	Glu254fs
Description	Insertion in coding region causing a frameshift and a stop at codon 275
Codon Change	From - to -
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Haites et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.761_762insA
	Deduced		c.761_762insA	E254fsX275
	Region	EX2	CDS	C
	Date Added: 01-May-99		ID: 271

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.94G>T
Alias	Val32Phe
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GTT to TTT
Phenotype	CMT1-severe
htz/hmz	htz
Family History	-

Haites et al., 1998 Yoshihara et al., 2000 References		Genomic	cDNA	Protein
	Observed	c.94G>T
	Deduced		c.94G>T	V32F
	Region	EX2	CDS	EC
	Date Added: 01-May-99		ID: 40

Name	c.161C>G
Alias	Ser54Cys
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TCC to TGC
Phenotype	CMT1-severe
htz/hmz	htz
Family History	-

Haites et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.161C>G
	Deduced		c.161C>G	S54C
	Region	EX2	CDS	EC
	Date Added: 01-May-99		ID: 43

Name	c.223delG
Alias	Asp75fs
Description	Deletion in coding region causing a frameshift and a stop at codon 102
Codon Change	From - to -
Phenotype	CMT1
htz/hmz	htz
Family History	-

Haites et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.223delG
	Deduced		c.223delG	D75fsX102
	Region	EX2	CDS	EC
	Date Added: 01-May-99		ID: 51

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

Name	c.292C>T
Alias	Arg98Cys
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CGC to TGC
Phenotype	CMT1-severe / DSS
htz/hmz	htz
Family History	de novo

Gabreëls-Festen et al., 1996 Rouger et al., 1996 Warner et al., 1996 Bort et al., 1997 Komiyama et al., 1997 Haites et al., 1998 Lee et al., 2004 Seeman, 2004 References		Genomic	cDNA	Protein
	Observed	c.292C>T
	Deduced		c.292C>T	R98C
	Region	EX3	CDS	EC
	Date Added: 01-May-99		ID: 59

Name	c.296T>C
Alias	Ile99Thr
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From ATC to ACC
Phenotype	CMT1 / CIDP
htz/hmz	htz
Family History	-

Haites et al., 1998 Donaghy et al., 2000 References		Genomic	cDNA	Protein
	Observed	c.296T>C
	Deduced		c.296T>C	I99T
	Region	EX3	CDS	EC
	Date Added: 01-May-99		ID: 63

Name	c.335T>C
Alias	Ile112Thr
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From ATT to ACT
Phenotype	CMT1-severe
htz/hmz	htz
Family History	-

Haites et al., 1998 Sorour et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.335T>C
	Deduced		c.335T>C	I112T
	Region	EX3	CDS	EC
	Date Added: 01-May-99		ID: 66

Name	c.384C>G
Alias	Asp128Glu
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GAC to GAG
Phenotype	CMT1
htz/hmz	htz
Family History	-

Haites et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.384C>G
	Deduced		c.384C>G	D128E
	Region	EX3	CDS	EC
	Date Added: 01-May-99		ID: 73

Name	c.428C>T
Alias	Thr143Met
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From ACG to ATG
Phenotype	CMT1
htz/hmz	htz
Family History	-

Haites et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.428C>T
	Deduced		c.428C>T	T143M
	Region	EX3	CDS	EC
	Date Added: 01-May-99		ID: 81

Name	c.676_677insCA
Alias	Ser226fs
Description	Insertion in coding region causing a frameshift and a stop at codon 252
Codon Change	From - to -
Phenotype	CMT1
htz/hmz	htz
Family History	-

Haites et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.676_677insCA
	Deduced		c.676_677insCA	S226fsX252
	Region	EX6	CDS	IC
	Date Added: 01-May-99		ID: 94

Mutations in PMP22

Name	c.56T>C
Alias	Leu19Pro
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CTG to CCG
Phenotype	DSS
htz/hmz	htz
Family History	-

Haites et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.56T>C
	Deduced		c.56T>C	L19P
	Region	EX2	CDS	TM1
	Date Added: 01-May-99		ID: 5

Name	c.183G>A
Alias	Trp61X
Description	Point mutation in coding region causing a stop mutation
Codon Change	From TGG to TGA
Phenotype	HNPP
htz/hmz	htz
Family History	-

Haites et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.183G>A
	Deduced		c.183G>A	W61X
	Region	EX4	CDS	EC1
	Date Added: 01-May-99		ID: 8

Name	c.353C>T
Alias	Thr118Met
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From ACG to ATG
Phenotype	CMT1 (hemizygous) / polymorphism (heterozygous)
htz/hmz	htz or hemizygous
Family History	-

Roa et al., 1993 Nelis et al., 1994 Haites et al., 1998 Seeman et al., 1999 Mersiyanova et al., 2000 Young et al., 2000 Grskovic et al., 2002 Marques et al., 2003 References		Genomic	cDNA	Protein
	Observed	c.353C>T
	Deduced		c.353C>T	T118M
	Region	EX5	CDS	TM3
	Date Added: 01-May-99		ID: 28

Inherited Peripheral Neuropathies Mutation Database

IPN Mutations

Mutations in GJB1 (Cx32)

Mutations in MPZ (P0)

Mutations in PMP22