Inherited Peripheral Neuropathies

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IPN Mutations

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last updated 17-Feb-11

Mutations in GJB1 (Cx32)

Name	c.-713G>A
Alias	-
Description	Point mutation in promoter 2
Codon Change	From - to -
Phenotype	CMT1X / polymorphism
htz/hmz	htz or hemizygous
Family History	-

Wang et al., 2000 Bergmann et al., 2001 References		Genomic	cDNA	Protein
	Observed	c.-713G>A
	Deduced		c.-713G>A
	Region	promoter 2	5'-UTR
	Date Added: 17-Jul-00		ID: 440

Name	c.-529T>C
Alias	-
Description	Point mutation in promoter 2
Codon Change	From - to -
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	D

Beauvais et al., 2006 References		Genomic	cDNA	Protein
	Observed	c.-529T>C
	Deduced		c.-529T>C
	Region	promoter 2	5'-UTR	-
	Date Added: 13-Mar-07		ID: 862

Name	c.-529T>G
Alias	-
Description	Point mutation in promoter 2
Codon Change	From - to -
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Ionasescu et al., 1996 References		Genomic	cDNA	Protein
	Observed	c.-529T>G
	Deduced		c.-529T>G
	Region	promoter 2	5'-UTR	-
	Date Added: 01-May-99		ID: 102

Name	c.-527G>C
Alias	-
Description	Point mutation in promoter 2
Codon Change	From - to -
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	XD

Houlden et al., 2004 References		Genomic	cDNA	Protein
	Observed	c.-527G>C
	Deduced		c.-527G>C	-
	Region	promoter 2	5'-UTR
	Date Added: 31-Mar-05		ID: 737

Name	c.-459C>T
Alias	-
Description	Point mutation in noncoding exon 1B
Codon Change	From - to -
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Ionasescu et al., 1996 Flagiello et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.-459C>T
	Deduced		c.-459C>T
	Region	EX1B	5'-UTR	-
	Date Added: 01-May-99		ID: 103

Name	c.-458G>A
Alias	-
Description	Point mutation in noncoding exon 1B
Codon Change	From - to -
Phenotype	polymorphism
htz/hmz	-
Family History	-

Bergmann et al., 2002 References		Genomic	cDNA	Protein
	Observed	c.-458G>A
	Deduced		c.-458G>A
	Region	EX1B	5'-UTR
	Date Added:		ID: 669

Name	c.-215G>A
Alias	-
Description	Point mutation in promoter 2
Codon Change	From - to -
Phenotype	CMT1X and ptosis
htz/hmz	htz or hemizygous
Family History	XD

Wu et al., 2004 References		Genomic	cDNA	Protein
	Observed	c.-215G>A
	Deduced		c.-215G>A
	Region	promotor 2	5'-UTR
	Date Added: 21-Jun-05		ID: 750

Name	c.7T>C
Alias	Trp3Arg
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TGG to CGG
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Ionasescu et al., 1996 References		Genomic	cDNA	Protein
	Observed	c.7T>C
	Deduced		c.7T>C	W3R
	Region	EX2	CDS	N
	Date Added: 01-May-99		ID: 104

Name	c.8G>A
Alias	Trp3X
Description	Point mutation in coding region causing a stop mutation
Codon Change	From TGG to TAG
Phenotype	Unknown
htz/hmz	htz or hemizygous
Family History	-

Ananth, 1999 References		Genomic	cDNA	Protein
	Observed	c.8G>A
	Deduced		c.8G>A	W3X
	Region	EX2	CDS	N
	Date Added: 01-Jul-99		ID: 288

Name	c.8G>C
Alias	Trp3Ser
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TGG to TCG
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Gupta et al., 1996 Ionasescu et al., 1996 References		Genomic	cDNA	Protein
	Observed	c.8G>C
	Deduced		c.8G>C	W3S
	Region	EX2	CDS	N
	Date Added: 01-May-99		ID: 105

Name	c.9G>A
Alias	Trp3X
Description	Point mutation in coding region causing a stop mutation
Codon Change	From TGG to TGA
Phenotype	CMT1X
htz/hmz	hemizygous
Family History	XD

Williams, 2000 References		Genomic	cDNA	Protein
	Observed	c.9G>A
	Deduced		c.9G>A	W3X
	Region	EX2	CDS	N
	Date Added: 15-Nov-00		ID: 466

Name	c.20_22delACA
Alias	Tyr7_Thr8delinsSer
Description	In frame deletion in coding region leading to a deletion of 2 amino acids and an insertion of a novel amino acid
Codon Change	From - to -
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Huehne et al., 2003 References		Genomic	cDNA	Protein
	Observed	c.20_22delACA
	Deduced		c.20_22delACA	Y7_T8delinsS
	Region	EX2	CDS	N
	Date Added: 04-Feb-03		ID: 616

Name	c.20A>G
Alias	Tyr7Cys
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TAC to TGC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Schiavon et al., 1996 Casasnovas et al., 2006 References		Genomic	cDNA	Protein
	Observed	c.20A>G
	Deduced		c.20A>G	Y7C
	Region	EX2	CDS	N
	Date Added: 01-May-99		ID: 106

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.26T>G
Alias	Leu9Trp
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TTG to TGG
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Nicholson et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.26T>G
	Deduced		c.26T>G	L9W
	Region	EX2	CDS	N
	Date Added: 01-Jul-99		ID: 289

Name	c.27G>T
Alias	Leu9Phe
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TTG to TTT
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	XD

Seeman et al., 2004 References		Genomic	cDNA	Protein
	Observed	c.27G>T
	Deduced		c.27G>T	L9F
	Region	EX2	CDS	N
	Date Added: 16-Jul-04		ID: 681

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.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.34G>A
Alias	Gly12Ser
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GGC to AGC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	XD

Bergoffen et al., 1993 References		Genomic	cDNA	Protein
	Observed	c.34G>A
	Deduced		c.34G>A	G12S
	Region	EX2	CDS	N
	Date Added: 01-May-99		ID: 109

Name	c.36C>T
Alias	Gly12Gly
Description	Point mutation in coding region causing a silent mutation
Codon Change	From GGC to GGT
Phenotype	- (polymorphism)
htz/hmz	htz or hemizygous
Family History	-

Ananth, 1999 References		Genomic	cDNA	Protein
	Observed	c.36C>T
	Deduced		c.36C>T	G12G
	Region	EX2	CDS	N
	Date Added: 01-Jul-99		ID: 290

Name	c.37G>A
Alias	Val13Met
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	-

Bone et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.37G>A
	Deduced		c.37G>A	V13M
	Region	EX2	CDS	N
	Date Added: 01-May-99		ID: 111

Name	c.37G>T
Alias	Val13Leu
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GTG to TTG
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1995 References		Genomic	cDNA	Protein
	Observed	c.37G>T
	Deduced		c.37G>T	V13L
	Region	EX2	CDS	N
	Date Added: 01-May-99		ID: 110

Name	c.42C>?
Alias	Asn14Lys
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From AAC to ?
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.42C>?
	Deduced		c.42C>?	N14K
	Region	EX2	CDS	N
	Date Added: 01-May-99		ID: 112

Name	c.43delC
Alias	Arg15fs
Description	Deletion in coding region causing a frameshift and a stop at codon 83
Codon Change	From - to -
Phenotype	unspecified CMT
htz/hmz	htz
Family History	-

Takashima et al., 2001 References		Genomic	cDNA	Protein
	Observed	c.43delC
	Deduced		c.43delC	R15fsX83
	Region	EX2	CDS	N
	Date Added: 11-Dec-03		ID: 378

Name	c.43C>T
Alias	Arg15Trp
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	-

Nelis et al., 1996 Janssen et al., 1997 Wicklein et al., 1997 Harvey, 1998 Panas et al., 1998 Senderek et al., 1998 Sorour et al., 1998 Guttierrez et al., 2000 Boerkoel et al., 2002 References		Genomic	cDNA	Protein
	Observed	c.43C>T
	Deduced		c.43C>T	R15W
	Region	EX2	CDS	N
	Date Added: 01-May-99		ID: 114

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.47A>C
Alias	His16Pro
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CAT to CCT
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.47A>C
	Deduced		c.47A>C	H16P
	Region	EX2	CDS	N
	Date Added: 01-May-99		ID: 115

Name	c.[59T>A;61G>A]
Alias	[Ile20Asn;Gly21Ser]
Description	Double point mutation in coding region causing a double amino acid substitution
Codon Change	From [ATT; GGC] to [AAT; AGC]
Phenotype	CMT1
htz/hmz	htz
Family History	-

Mersiyanova et al., 2000 References		Genomic	cDNA	Protein
	Observed	c.[59T>A; 61G>A]
	Deduced		c.[59T>A; 61G>A]	[I20N; G21S]
	Region	EX2	CDS	N
	Date Added: 09-Jul-99		ID: 345

Name	c.59T>G
Alias	Ile20Ser
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From ATT to AGT
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.59T>G
	Deduced		c.59T>G	I20S
	Region	EX2	CDS	N
	Date Added: 01-May-99		ID: 116

Name	c.62G>A
Alias	Gly21Asp
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GGC to GAC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.62G>A
	Deduced		c.62G>A	G21D
	Region	EX2	CDS	N
	Date Added: 01-May-99		ID: 117

Name	c.64C>G
Alias	Arg22Gly
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CGA to GGA
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Ressot et al., 1996 References		Genomic	cDNA	Protein
	Observed	c.64C>G
	Deduced		c.64C>G	R22G
	Region	EX2	CDS	TM1
	Date Added: 01-May-99		ID: 119

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.[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.65G>C
Alias	Arg22Pro
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CGA to CCA
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Ressot et al., 1996 References		Genomic	cDNA	Protein
	Observed	c.65G>C
	Deduced		c.65G>C	R22P
	Region	EX2	CDS	TM1
	Date Added: 01-May-99		ID: 120

Name	c.68T>A
Alias	Val23Glu
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GTA to GAA
Phenotype	CMT1/2
htz/hmz	htz
Family History	-

Mostacciuolo et al., 1999 References		Genomic	cDNA	Protein
	Observed	c.68T>A
	Deduced		c.68T>A	V23E
	Region	EX2	CDS	TM1
	Date Added: 12-Jul-99		ID: 349

Name	c.68T>C
Alias	Val23Ala
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GTA to GCA
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bort et al., 1997 Casasnovas et al., 2006 References		Genomic	cDNA	Protein
	Observed	c.68T>C
	Deduced		c.68T>C	V23A
	Region	EX2	CDS	TM1
	Date Added: 01-May-99		ID: 123

Name	c.72G>T
Alias	Trp24Cys
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TGG to TGT
Phenotype	CMT1X + CNS involvement
htz/hmz	htz or hemizygous
Family History	XD

Lee et al., 2002 References		Genomic	cDNA	Protein
	Observed	c.72G>T
	Deduced		c.72G>T	W24C
	Region	EX2	CDS	TM1
	Date Added: 04-Feb-03		ID: 584

Name	c.73C>T
Alias	Leu25Phe
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	-

Nelis et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.73C>T
	Deduced		c.73C>T	L25F
	Region	EX2	CDS	TM1
	Date Added: 01-May-99		ID: 124

Name	c.74T>C
Alias	Leu25Pro
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CTC to CCC
Phenotype	CMT1
htz/hmz	htz or hemizygous
Family History	unknown

Mostacciuolo et al., 2001 References		Genomic	cDNA	Protein
	Observed	c.74T>C
	Deduced		c.74T>C	L25P
	Region	EX2	CDS	TM1
	Date Added: 20-Jul-01		ID: 532

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>G
Alias	Ser26Trp
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TCG to TGG
Phenotype	CMT1X
htz/hmz	htz
Family History	-

Young et al., 2001 References		Genomic	cDNA	Protein
	Observed	c.77C>G
	Deduced		c.77C>G	S26W
	Region	EX2	CDS	TM1
	Date Added: 28-Jun-01		ID: 491

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.83T>A
Alias	Ile28Asn
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., 1997 Bienfait et al., 1999 References		Genomic	cDNA	Protein
	Observed	c.83T>A
	Deduced		c.83T>A	I28N
	Region	EX2	CDS	TM1
	Date Added: 01-May-99		ID: 127

Name	c.83T>C
Alias	Ile28Thr
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From ATC to ACC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1997 Nicholson et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.83T>C
	Deduced		c.83T>C	I28T
	Region	EX2	CDS	TM1
	Date Added: 01-May-99		ID: 128

Name	c.85T>C
Alias	Phe29Leu
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TTC to CTC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.85T>C
	Deduced		c.85T>C	F29L
	Region	EX2	CDS	TM1
	Date Added: 01-May-99		ID: 130

Name	c.88A>T
Alias	Ile30Phe
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From ATC to TTC
Phenotype	Unknown
htz/hmz	htz or hemizygous
Family History	-

Ananth, 1999 References		Genomic	cDNA	Protein
	Observed	c.88A>T
	Deduced		c.88A>T	I30F
	Region	EX2	CDS	TM1
	Date Added: 01-Jul-99		ID: 292

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.89T>C
Alias	Ile30Thr
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From ATC to ACC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Nicholson et al., 1998 Ananth, 1999 References		Genomic	cDNA	Protein
	Observed	c.89T>C
	Deduced		c.89T>C	I30T
	Region	EX2	CDS	TM1
	Date Added: 01-Jul-99		ID: 293

Name	c.90C>G
Alias	Ile30Met
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From ATC to ATG
Phenotype	Unknown
htz/hmz	htz or hemizygous
Family History	-

Ananth, 1999 References		Genomic	cDNA	Protein
	Observed	c.90C>G
	Deduced		c.90C>G	I30M
	Region	EX2	CDS	TM1
	Date Added: 01-Jul-99		ID: 291

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.100A>G
Alias	Met34Val
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From ATG to GTG
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1997 Latour et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.100A>G
	Deduced		c.100A>G	M34V
	Region	EX2	CDS	TM1
	Date Added: 01-May-99		ID: 133

Name	c.101T>A
Alias	Met34Lys
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From ATG to AAG
Phenotype	CMT1/2
htz/hmz	htz
Family History	-

Mersiyanova et al., 2000 References		Genomic	cDNA	Protein
	Observed	c.101T>A
	Deduced		c.101T>A	M34K
	Region	EX2	CDS	TM1
	Date Added: 09-Jul-99		ID: 344

Name	c.101T>C
Alias	Met34Thr
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From ATG to ACG
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Tan et al., 1996 Rouger et al., 1997 Nicholson et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.101T>C
	Deduced		c.101T>C	M34T
	Region	EX2	CDS	TM1
	Date Added: 01-May-99		ID: 132

Name	c.102G>A
Alias	Met34Ile
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From ATG to ATA
Phenotype	Unknown
htz/hmz	htz or hemizygous
Family History	-

Ananth, 1999 References		Genomic	cDNA	Protein
	Observed	c.102G>A
	Deduced		c.102G>A	M34I
	Region	EX2	CDS	TM1
	Date Added: 01-Jul-99		ID: 294

Name	c.103G>A
Alias	Val35Met
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	-

Cherryson et al., 1994 Bergmann, 2002 References		Genomic	cDNA	Protein
	Observed	c.103G>A
	Deduced		c.103G>A	V35M
	Region	EX2	CDS	TM1
	Date Added: 01-May-99		ID: 134

Name	c.109G>A
Alias	Val37Met
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	-

Ikegami et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.109G>A
	Deduced		c.109G>A	V37M
	Region	EX2	CDS	TM1
	Date Added: 01-May-99		ID: 135

Name	c.112G>A
Alias	Val38Met
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	-

Orth et al., 1994 References		Genomic	cDNA	Protein
	Observed	c.112G>A
	Deduced		c.112G>A	V38M
	Region	EX2	CDS	TM1
	Date Added: 01-May-99		ID: 136

Name	c.113T>C
Alias	Val38Ala
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GTG to GCG
Phenotype	CMT1X + hearing loss
htz/hmz	-
Family History	D

Karadima et al., 2004 References		Genomic	cDNA	Protein
	Observed	c.113T>C
	Deduced		c.113T>C	V38A
	Region	EX2	CDS	TM1
	Date Added: 13-Jun-05		ID: 742

Name	c.114_115insC
Alias	Ala39fs
Description	Deletion in coding region causing a frameshift and a stop at codon 46
Codon Change	From - to -
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Dubourg et al., 2001 References		Genomic	cDNA	Protein
	Observed	c.114_115insC
	Deduced		c.114_115insC	A39fsX46
	Region	EX2	CDS	TM1
	Date Added: 10-Jun-05		ID: 738

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.115delG
Alias	Ala39fs
Description	Deletion in coding region causing a frameshift and a stop at codon 83
Codon Change	From - to -
Phenotype	CMT
htz/hmz	htz or hemizygous
Family History	D

Casasnovas et al., 2006 References		Genomic	cDNA	Protein
	Observed	c.115delG
	Deduced		c.115delG	A39fsX83
	Region	EX2	CDS	TM1
	Date Added: 03-Dec-07		ID: 925

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.118G>A
Alias	Ala40Thr
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GCA to ACA
Phenotype	CMT1X
htz/hmz	hemizygous
Family History	isolated

Ma et al., 2002 References		Genomic	cDNA	Protein
	Observed	c.118G>A
	Deduced		c.118G>A	A40T
	Region	EX2	CDS	TM1
	Date Added: 10-Jun-05		ID: 739

Name	c.119C>T
Alias	Ala40Val
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GCA to GTA
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Nelis et al., 1996 References		Genomic	cDNA	Protein
	Observed	c.119C>T
	Deduced		c.119C>T	A40V
	Region	EX2	CDS	TM1
	Date Added: 01-May-99		ID: 139

Name	c.121G>A
Alias	Glu41Lys
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	-

Bone et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.121G>A
	Deduced		c.121G>A	E41K
	Region	EX2	CDS	TM1
	Date Added: 01-May-99		ID: 140

Name	c.123G>C
Alias	Glu41Asp
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GAG to GAC
Phenotype	CMT1X + CNS involvement
htz/hmz	htz or hemizygous
Family History	D

Murru et al., 2006 References		Genomic	cDNA	Protein
	Observed	c.123G>C
	Deduced		c.123G>C	E41D
	Region	EX2	CDS	TM1
	Date Added: 12-Dec-06		ID: 833

Name	c.124delA
Alias	Ser42fs
Description	Deletion in coding region causing a frameshift and a stop at codon 83
Codon Change	From - to -
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Sillibourne et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.124delA
	Deduced		c.124delA	S42fsX83
	Region	EX2	CDS	EC1
	Date Added: 01-May-99		ID: 141

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.131G>A
Alias	Trp44X
Description	Point mutation in coding region causing a stop mutation
Codon Change	From TGG to TAG
Phenotype	Unknown
htz/hmz	htz or hemizygous
Family History	-

Ananth, 1999 References		Genomic	cDNA	Protein
	Observed	c.131G>A
	Deduced		c.131G>A	W44X
	Region	EX2	CDS	EC1
	Date Added: 01-Jul-99		ID: 295

Name	c.131G>T
Alias	Trp44Leu
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TGG to TTG
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.131G>T
	Deduced		c.131G>T	W44L
	Region	EX2	CDS	EC1
	Date Added: 01-May-99		ID: 143

Name	c.132G>A
Alias	Trp44X
Description	Point mutation in coding region causing a stop mutation
Codon Change	From TGG to TGA
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Felice et al., 2000 References		Genomic	cDNA	Protein
	Observed	c.132G>A
	Deduced		c.132G>A	W44X
	Region	EX2	CDS	EC1
	Date Added: 17-Jul-00		ID: 438

Name	c.137A>G
Alias	Asp46Gly
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GAT to GGT
Phenotype	CMT1
htz/hmz	hemizygous
Family History	isolated

Park et al., 2006 References		Genomic	cDNA	Protein
	Observed	c.137A>G
	Deduced		c.137A>G	D46G
	Region	EX2	CDS	EC1
	Date Added: 29-Nov-07		ID: 917

Name	c.140A>G
Alias	Glu47Gly
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GAG to GGG
Phenotype	CMT1
htz/hmz	hemizygous
Family History	D

Casasnovas et al., 2006 References		Genomic	cDNA	Protein
	Observed	c.140A>G
	Deduced		c.140A>G	E47G
	Region	EX2	CDS	EC1
	Date Added: 21-Nov-07		ID: 880

Name	c.145T>C
Alias	Ser49Pro
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TCT to CCT
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	XD

Street et al., 2002 References		Genomic	cDNA	Protein
	Observed	c.145T>C
	Deduced		c.145T>C	S49P
	Region	EX2	CDS	EC1
	Date Added: 25-Nov-02		ID: 577

Name	c.146C>A
Alias	Ser49Tyr
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TCT to TAT
Phenotype	CMT2
htz/hmz	htz or hemizygous
Family History	D

Timmerman et al., 1996 References		Genomic	cDNA	Protein
	Observed	c.146C>A
	Deduced		c.146C>A	S49Y
	Region	EX2	CDS	EC1
	Date Added: 01-May-99		ID: 144

Name	c.148T>C
Alias	Ser50Pro
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TCC to CCC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Latour et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.148T>C
	Deduced		c.148T>C	S50P
	Region	EX2	CDS	EC1
	Date Added: 01-May-99		ID: 145

Name	c.153C>A
Alias	Phe51Leu
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TTC to TTA
Phenotype	Unknown
htz/hmz	htz or hemizygous
Family History	-

Ananth, 1999 References		Genomic	cDNA	Protein
	Observed	c.153C>A
	Deduced		c.153C>A	F51L
	Region	EX2	CDS	EC1
	Date Added: 01-Jul-99		ID: 296

Name	c.158G>C
Alias	Cys53Ser
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TGC to TCC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Yoshimura et al., 1996 Casasnovas et al., 2006 References		Genomic	cDNA	Protein
	Observed	c.158G>C
	Deduced		c.158G>C	C53S
	Region	EX2	CDS	EC1
	Date Added: 01-May-99		ID: 146

Name	c.163A>G
Alias	Thr55Ala
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From ACA to GCA
Phenotype	CMT
htz/hmz	htz or hemizygous
Family History	-

Hattori et al., 2003 References		Genomic	cDNA	Protein
	Observed	c.163A>G
	Deduced		c.163A>G	T55A
	Region	EX2	CDS	EC1
	Date Added: 16-Jul-04		ID: 685

Name	c.164C>G
Alias	Thr55Arg
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From ACA to AGA
Phenotype	CMT1X + CNS involvement
htz/hmz	htz or hemizygous
Family History	XD

Lee et al., 2002 References		Genomic	cDNA	Protein
	Observed	c.164C>G
	Deduced		c.164C>G	T55R
	Region	EX2	CDS	EC1
	Date Added:		ID: 579

Name	c.164C>T
Alias	Thr55Ile
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From ACA to ATA
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	XD

Panas et al., 1998 Hahn et al., 2001 References		Genomic	cDNA	Protein
	Observed	c.164C>T
	Deduced		c.164C>T	T55I
	Region	EX2	CDS	EC1
	Date Added: 01-May-99		ID: 147

Name	c.166C>T
Alias	Leu56Phe
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	-

Nelis et al., 1996 Latour et al., 1997 Dubourg et al., 2001 References		Genomic	cDNA	Protein
	Observed	c.166C>T
	Deduced		c.166C>T	L56F
	Region	EX2	CDS	EC1
	Date Added: 01-May-99		ID: 148

Name	c.171G>C
Alias	Gln57His
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CAG to CAC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Ikegami et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.171G>C
	Deduced		c.171G>C	Q57H
	Region	EX2	CDS	EC1
	Date Added: 01-May-99		ID: 149

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.175G>C
Alias	Gly59Arg
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GGC to CGC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Ananth, 1999 Felice et al., 2000 References		Genomic	cDNA	Protein
	Observed	c.175G>C
	Deduced		c.175G>C	G59R
	Region	EX2	CDS	EC1
	Date Added: 01-Jul-99		ID: 297

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.178T>A
Alias	Cys60Ser
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TGC to AGC
Phenotype	Unknown
htz/hmz	htz or hemizygous
Family History	-

Ananth, 1999 References		Genomic	cDNA	Protein
	Observed	c.178T>A
	Deduced		c.178T>A	C60S
	Region	EX2	CDS	EC1
	Date Added: 01-Jul-99		ID: 299

Name	c.178T>C
Alias	Cys60Arg
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TGC to CGC
Phenotype	Unknown
htz/hmz	htz or hemizygous
Family History	-

Ananth, 1999 References		Genomic	cDNA	Protein
	Observed	c.178T>C
	Deduced		c.178T>C	C60R
	Region	EX2	CDS	EC1
	Date Added: 01-Jul-99		ID: 298

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.184_185insCACTCCAGCCTGGCTGCAACA
Alias	Asn61_Ser62insTyrLeuGlnProGlyCysAsn
Description	Insertion in coding region causing seven amino acids insertion
Codon Change	From - to -
Phenotype	CMT1X (+ CNS involvement)
htz/hmz	hemizygous
Family History	XD

Kawakami et al., 2002 References		Genomic	cDNA	Protein
	Observed	c.184_185insCACTCCAGCCTGGCTGCAACA
	Deduced		c.184_185insCACTCCAGCCTGGCTGCAACA	N61_S62insYLQPGCN
	Region	EX2	CDS	EC1
	Date Added: 25-Nov-02		ID: 572

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.191G>C
Alias	Cys64Ser
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TGC to TCC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bort et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.191G>C
	Deduced		c.191G>C	C64S
	Region	EX2	CDS	EC1
	Date Added: 01-May-99		ID: 154

Name	c.191G>T
Alias	Cys64Phe
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TGC to TTC
Phenotype	CMT1X
htz/hmz	hemizygous
Family History	-

Young et al., 2001 References		Genomic	cDNA	Protein
	Observed	c.191G>T
	Deduced		c.191G>T	C64F
	Region	EX2	CDS	EC1
	Date Added: 28-Jun-01		ID: 492

Name	c.193T>C
Alias	Tyr65His
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TAT to CAT
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	XD

Seeman et al., 2001 References		Genomic	cDNA	Protein
	Observed	c.193T>C
	Deduced		c.193T>C	Y65H
	Region	EX2	CDS	EC1
	Date Added: 15-Nov-00		ID: 465

Name	c.194A>G
Alias	Tyr65Cys
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	-

Bone et al., 1995 References		Genomic	cDNA	Protein
	Observed	c.194A>G
	Deduced		c.194A>G	Y65C
	Region	EX2	CDS	EC1
	Date Added: 01-May-99		ID: 155

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.205T>C
Alias	Phe69Leu
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TTC to CTC
Phenotype	CMT2
htz/hmz	htz or hemizygous
Family History	-

Ananth, 1999 Yoshihara et al., 2000 Casasnovas et al., 2006 References		Genomic	cDNA	Protein
	Observed	c.205T>C
	Deduced		c.205T>C	F69L
	Region	EX2	CDS	EC1
	Date Added: 01-Jul-99		ID: 300

Name	c.208C>G
Alias	Pro70Ala
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CCC to GCC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Ionasescu et al., 1998 Ananth, 1999 References		Genomic	cDNA	Protein
	Observed	c.208C>G
	Deduced		c.208C>G	P70A
	Region	EX2	CDS	EC1
	Date Added: 01-Jul-99		ID: 301

Name	c.208C>T
Alias	Pro70Ser
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CCC to TCC
Phenotype	Unknown
htz/hmz	htz or hemizygous
Family History	-

Ananth, 1999 References		Genomic	cDNA	Protein
	Observed	c.208C>T
	Deduced		c.208C>T	P70S
	Region	EX2	CDS	EC1
	Date Added: 01-Jul-99		ID: 302

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.215C>T
Alias	Ser72Phe
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TCC to TTC
Phenotype	Unknown
htz/hmz	htz or hemizygous
Family History	-

Ananth, 1999 References		Genomic	cDNA	Protein
	Observed	c.215C>T
	Deduced		c.215C>T	S72F
	Region	EX2	CDS	EC1
	Date Added: 01-Jul-99		ID: 303

Name	c.217delC
Alias	His73fs
Description	Deletion in coding region causing a frameshift and a stop at codon 83
Codon Change	From - to -
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Fairweather et al., 1994 Nelis et al., 1996 References		Genomic	cDNA	Protein
	Observed	c.217delC
	Deduced		c.217delC	H73fsX83
	Region	EX2	CDS	EC1
	Date Added: 01-May-99		ID: 158

Name	c.223C>T
Alias	Arg75Trp
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CGG to TGG
Phenotype	CMT1X / CMT2 (+CNS involvement)
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1997 Latour et al., 1997 Silander et al., 1997 Numakura et al., 2002 Taylor et al., 2003 Casasnovas et al., 2006 References		Genomic	cDNA	Protein
	Observed	c.223C>T
	Deduced		c.223C>T	R75W
	Region	EX2	CDS	TM2
	Date Added: 01-May-99		ID: 161

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.224G>C
Alias	Arg75Pro
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CGG to CCG
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.224G>C
	Deduced		c.224G>C	R75P
	Region	EX2	CDS	TM2
	Date Added: 01-May-99		ID: 160

Name	c.230G>C
Alias	Trp77Ser
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TGG to TCG
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Ionasescu et al., 1996 References		Genomic	cDNA	Protein
	Observed	c.230G>C
	Deduced		c.230G>C	W77S
	Region	EX2	CDS	TM2
	Date Added: 01-May-99		ID: 162

Name	c.230G>T
Alias	Trp77Leu
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TGG to TTG
Phenotype	Unknown
htz/hmz	htz or hemizygous
Family History	-

Ananth, 1999 References		Genomic	cDNA	Protein
	Observed	c.230G>T
	Deduced		c.230G>T	W77L
	Region	EX2	CDS	TM2
	Date Added: 01-Jul-99		ID: 304

Name	c.231G>A
Alias	Trp77X
Description	Point mutation in coding region causing a stop mutation
Codon Change	From TGG to TGA
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1997 Numakura et al., 2002 References		Genomic	cDNA	Protein
	Observed	c.231G>A
	Deduced		c.231G>A	W77X
	Region	EX2	CDS	TM2
	Date Added: 01-May-99		ID: 163

Name	c.235C>T
Alias	Leu79Leu
Description	Point mutation in coding region causing a silent mutation
Codon Change	From CTG to TTG
Phenotype	- (polymorphism)
htz/hmz	htz
Family History	-

Nelis, 1998 Mersiyanova et al., 2000 References		Genomic	cDNA	Protein
	Observed	c.235C>T
	Deduced		c.235C>T	L79L
	Region	EX2	CDS	TM2
	Date Added: 01-May-99		ID: 279

Name	c.238C>T
Alias	Gln80X
Description	Point mutation in coding region causing a stop mutation
Codon Change	From CAG to TAG
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.238C>T
	Deduced		c.238C>T	Q80X
	Region	EX2	CDS	TM2
	Date Added: 01-May-99		ID: 165

Name	c.239A>G
Alias	Gln80Arg
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CAG to CGG
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Ionasescu et al., 1996 Mersiyanova et al., 2000 References		Genomic	cDNA	Protein
	Observed	c.239A>G
	Deduced		c.239A>G	Q80R
	Region	EX2	CDS	TM2
	Date Added: 01-May-99		ID: 164

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.242T>A
Alias	Leu81His
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CTC to CAC
Phenotype	Unknown
htz/hmz	htz or hemizygous
Family History	-

Ananth, 1999 References		Genomic	cDNA	Protein
	Observed	c.242T>A
	Deduced		c.242T>A	L81H
	Region	EX2	CDS	TM2
	Date Added: 01-Jul-99		ID: 305

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.248T>G
Alias	Leu83Arg
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CTA to CGA
Phenotype	CMT1/2
htz/hmz	htz or hemizygous
Family History	XD

Williams, 2000 References		Genomic	cDNA	Protein
	Observed	c.248T>G
	Deduced		c.248T>G	L83R
	Region	EX2	CDS	TM2
	Date Added: 15-Nov-00		ID: 467

Name	c.250G>A
Alias	Val84Ile
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GTT to ATT
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Rouger et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.250G>A
	Deduced		c.250G>A	V84I
	Region	EX2	CDS	TM2
	Date Added: 01-May-99		ID: 168

Name	c.254C>G
Alias	Ser85Cys
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TCC to TGC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Janssen et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.254C>G
	Deduced		c.254C>G	S85C
	Region	EX2	CDS	TM2
	Date Added: 01-May-99		ID: 169

Name	c.254C>T
Alias	Ser85Phe
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TCC to TTC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.254C>T
	Deduced		c.254C>T	S85F
	Region	EX2	CDS	TM2
	Date Added: 01-May-99		ID: 170

Name	c.256A>G
Alias	Thr86Ala
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From ACC to GCC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Sorour et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.256A>G
	Deduced		c.256A>G	T86A
	Region	EX2	CDS	TM2
	Date Added: 01-May-99		ID: 171

Name	c.256A>T
Alias	Thr86Ser
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From ACC to TCC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.256A>T
	Deduced		c.256A>T	T86S
	Region	EX2	CDS	TM2
	Date Added: 01-May-99		ID: 173

Name	c.257C>A
Alias	Thr86Asn
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From ACC to AAC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.257C>A
	Deduced		c.257C>A	T86N
	Region	EX2	CDS	TM2
	Date Added: 01-May-99		ID: 172

Name	c.259C>G
Alias	Pro87Ala
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CCA to GCA
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	familial

Nelis et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.259C>G
	Deduced		c.259C>G	P87A
	Region	EX2	CDS	TM2
	Date Added: 01-May-99		ID: 174

Name	c.259C>T
Alias	Pro87Ser
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CCA to TCA
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bort et al., 1997 Janssen et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.259C>T
	Deduced		c.259C>T	P87S
	Region	EX2	CDS	TM2
	Date Added: 01-May-99		ID: 176

Name	c.260C>T
Alias	Pro87Leu
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CCA to CTA
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1997 Hahn et al., 2001 Kuntzer et al., 2003 References		Genomic	cDNA	Protein
	Observed	c.260C>T
	Deduced		c.260C>T	P87L
	Region	EX2	CDS	TM2
	Date Added: 01-May-99		ID: 175

Name	c.265C>G
Alias	Leu89Val
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CTC to GTC
Phenotype	Unknown
htz/hmz	htz or hemizygous
Family History	-

Ananth, 1999 References		Genomic	cDNA	Protein
	Observed	c.265C>G
	Deduced		c.265C>G	L89V
	Region	EX2	CDS	TM2
	Date Added: 01-Jul-99		ID: 306

Name	c.266T>C
Alias	Leu89Pro
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CTC to CCC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Janssen et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.266T>C
	Deduced		c.266T>C	L89P
	Region	EX2	CDS	TM2
	Date Added: 01-May-99		ID: 177

Name	c.268C>G
Alias	Leu90Val
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CTC to GTC
Phenotype	CMT1/2
htz/hmz	htz
Family History	-

Mersiyanova et al., 2000 References		Genomic	cDNA	Protein
	Observed	c.268C>G
	Deduced		c.268C>G	L90V
	Region	EX2	CDS	TM2
	Date Added: 09-Jul-99		ID: 346

Name	c.269T>A
Alias	Leu90His
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CTC to CAC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Latour et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.269T>A
	Deduced		c.269T>A	L90H
	Region	EX2	CDS	TM2
	Date Added: 01-May-99		ID: 178

Name	c.271G>A
Alias	Val91Met
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

Ananth, 1999 Bissar-Tadmouri et al., 2000 Dubourg et al., 2001 Sahin et al., 2003 References		Genomic	cDNA	Protein
	Observed	c.271G>A
	Deduced		c.271G>A	V91M
	Region	EX2	CDS	TM2
	Date Added: 01-Jul-99		ID: 308

Name	c.272T>C
Alias	Val91Ala
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GTG to GCG
Phenotype	Unknown
htz/hmz	htz or hemizygous
Family History	-

Ananth, 1999 References		Genomic	cDNA	Protein
	Observed	c.272T>C
	Deduced		c.272T>C	V91A
	Region	EX2	CDS	TM2
	Date Added: 01-Jul-99		ID: 307

Name	c.273_274delGG
Alias	Val91fs
Description	Deletion in coding region causing a frameshift and a stop at codon 108
Codon Change	From - to -
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Sorour et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.273_274delGG
	Deduced		c.273_274delGG	V91fsX108
	Region	EX2	CDS	TM2
	Date Added: 01-May-99		ID: 179

Name	c.275_276delCC
Alias	Ala92fs
Description	Deletion in coding region causing a frameshift and a stop at codon 108
Codon Change	From - to -
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Sorour et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.275_276delCC
	Deduced		c.275_276delCC	A92fsX108
	Region	EX2	CDS	TM2
	Date Added: 01-May-99		ID: 180

Name	c.277A>G
Alias	Met93Val
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From ATG to GTG
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Nelis et al., 1996 Mersiyanova et al., 2000 References		Genomic	cDNA	Protein
	Observed	c.277A>G
	Deduced		c.277A>G	M93V
	Region	EX2	CDS	TM2
	Date Added: 01-May-99		ID: 181

Name	c.280C>G
Alias	His94Asp
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CAC to GAC
Phenotype	CMT1/2
htz/hmz	htz or hemizygous
Family History	-

Dubourg et al., 2001 References		Genomic	cDNA	Protein
	Observed	c.280C>G
	Deduced		c.280C>G	H94D
	Region	EX2	CDS	TM2
	Date Added: 16-Jul-04		ID: 688

Name	c.280C>T
Alias	His94Tyr
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CAC to TAC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Gabern et al., 1996 Bone et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.280C>T
	Deduced		c.280C>T	H94Y
	Region	EX2	CDS	TM2
	Date Added: 01-May-99		ID: 183

Name	c.282C>A
Alias	His94Gln
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CAC to CAA
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.282C>A
	Deduced		c.282C>A	H94Q
	Region	EX2	CDS	TM2
	Date Added: 01-May-99		ID: 182

Name	c.282C>G
Alias	His94Gln
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CAC to CAG
Phenotype	CMT1
htz/hmz	htz
Family History	-

Mostacciuolo et al., 1999 Dubourg et al., 2001 References		Genomic	cDNA	Protein
	Observed	c.282C>G
	Deduced		c.282C>G	H94Q
	Region	EX2	CDS	TM2
	Date Added: 12-Jul-99		ID: 350

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.287C>T
Alias	Ala96Val
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GCT to GTT
Phenotype	Unknown
htz/hmz	htz or hemizygous
Family History	-

Ananth, 1999 References		Genomic	cDNA	Protein
	Observed	c.287C>T
	Deduced		c.287C>T	A96V
	Region	EX2	CDS	IC
	Date Added: 01-Jul-99		ID: 309

Name	c.298C>T
Alias	His100Tyr
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CAC to TAC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	familial

Bone et al., 1997 Sorour et al., 1998 Seeman, 2004 References		Genomic	cDNA	Protein
	Observed	c.298C>T
	Deduced		c.298C>T	H100Y
	Region	EX2	CDS	IC
	Date Added: 01-May-99		ID: 185

Name	c.304G>T
Alias	Glu102X
Description	Point mutation in coding region causing a stop mutation
Codon Change	From GAG to TAG
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Latour et al., 1997 Tabaraud et al., 1999 References		Genomic	cDNA	Protein
	Observed	c.304G>T
	Deduced		c.304G>T	E102X
	Region	EX2	CDS	IC
	Date Added: 01-May-99		ID: 187

Name	c.305A>G
Alias	Glu102Gly
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GAG to GGG
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Ionasescu et al., 1996 Sahenk and Chen, 1998 Boerkoel et al., 2002 References		Genomic	cDNA	Protein
	Observed	c.305A>G
	Deduced		c.305A>G	E102G
	Region	EX2	CDS	IC
	Date Added: 01-May-99		ID: 186

Name	c.306insA
Alias	Glu102fs
Description	Insertion in coding region causing a frameshift and a stop at codon 109
Codon Change	From - to -
Phenotype	CMT1X
htz/hmz	htz
Family History	unknown

Young et al., 2001 References		Genomic	cDNA	Protein
	Observed	c.368insA
	Deduced		c.368insA	Glu102insX109
	Region	EX2	CDS	IC
	Date Added: 16-Sep-01		ID: 587

Name	c.304_306delGAG
Alias	Glu102del
Description	Deletion in coding region causing an amino acid deletion
Codon Change	From - to -
Phenotype	CMT1 + white matter lesions
htz/hmz	hemizygous
Family History	D

Bergmann, 2002 Hanemann et al., 2003 References		Genomic	cDNA	Protein
	Observed	c.304_306delGAG
	Deduced		c.304_306delGAG	E102del
	Region	EX2	CDS	IC
	Date Added: 20-Mar-02		ID: 556

Name	c.307A>G
Alias	Lys103Glu
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From AAG to GAG
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.307A>G
	Deduced		c.307A>G	K103E
	Region	EX2	CDS	IC
	Date Added: 01-May-99		ID: 188

Name	c.311A>C
Alias	Lys104Thr
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From AAA to ACA
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Williams et al., 1999 References		Genomic	cDNA	Protein
	Observed	c.311A>C
	Deduced		c.311A>C	K104T
	Region	EX2	CDS	IC
	Date Added: 01-May-99		ID: 189

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.318A>G
Alias	Leu106Leu
Description	Point mutation in coding region causing a silent mutation
Codon Change	From CTA to CTG
Phenotype	- (polymorphism)
htz/hmz	htz or hemizygous
Family History	-

Ananth, 1999 References		Genomic	cDNA	Protein
	Observed	c.318A>G
	Deduced		c.318A>G	L106L
	Region	EX2	CDS	IC
	Date Added: 01-Jul-99		ID: 310

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.323T>C
Alias	Leu108Pro
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CTT to CCT
Phenotype	CMT2
htz/hmz	htz or hemizygous
Family History	isolated

Boerkoel et al., 2002 References		Genomic	cDNA	Protein
	Observed	c.323T>C
	Deduced		c.323T>C	L108P
	Region	EX2	CDS	IC
	Date Added: 29-Mar-02		ID: 568

Name	c.324_325insT
Alias	Glu109X
Description	Insertion in coding region causing a frameshift and a stop at codon 109
Codon Change	From - to -
Phenotype	CMT1X + CNS involvement
htz/hmz	htz or hemizygous
Family History	XD

Lee et al., 2002 References		Genomic	cDNA	Protein
	Observed	c.325G>T
	Deduced		c.325G>T	E109X
	Region	EX2	CDS	IC
	Date Added: 04-Feb-03		ID: 580

Name	c.329G>A
Alias	Gly110Asp
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GGC to GAC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	XD

Kochanski et al., 2004 References		Genomic	cDNA	Protein
	Observed	c.329G>A
	Deduced		c.329G>A	G110D
	Region	EX2	CDS	IC
	Date Added: 13-May-04		ID: 408

Name	c.332_349delATGGGGACCCCCTACACC
Alias	His111_His116del
Description	Deletion in coding region causing six amino acids deletion
Codon Change	From - to -
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Cherryson et al., 1994 Ionasescu et al., 1996 References		Genomic	cDNA	Protein
	Observed	c.332_349delATGGGGACCCCCTACACC
	Deduced		c.332_349delATGGGGACCCCCTACACC	H111_H116del
	Region	EX2	CDS	IC
	Date Added: 01-May-99		ID: 192

Name	c.338_345delACCCCCTA insTGGC
Alias	Asp113fs
Description	Deletion and insertion in coding region causing a frameshift
Codon Change	From - to -
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Hahn et al., 1999 References		Genomic	cDNA	Protein
	Observed	c.338_345delACCCCCTAinsTGGC
	Deduced		c.338_345delACCCCCTAinsTGGC	D113fsX119
	Region	EX2	CDS	IC
	Date Added: 06-Dec-99		ID: 422

Name	c.358_360delGTG
Alias	Val120del
Description	Deletion in coding region causing an amino acid deletion
Codon Change	From - to -
Phenotype	CMT1
htz/hmz	htz
Family History	unknown

Numakura et al., 2002 References		Genomic	cDNA	Protein
	Observed	c.358_360delGTG
	Deduced		c.358_360delGTG	V120del
	Region	EX2	CDS	IC
	Date Added: 04-Feb-03		ID: 629

Name	c.359T>A
Alias	Val120Glu
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GTG to GAG
Phenotype	CMT1X (+ CNS involvement)
htz/hmz	htz or hemizygous
Family History	-

Panas et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.359T>A
	Deduced		c.359T>A	V120E
	Region	EX2	CDS	IC
	Date Added: 01-May-99		ID: 193

Name	c.371delA
Alias	Lys124fs
Description	Deletion in coding region causing a frameshift and a stop at codon 195
Codon Change	From - to -
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.371delA
	Deduced		c.371delA	K124fsX195
	Region	EX2	CDS	IC
	Date Added: 01-May-99		ID: 195

Name	c.372G>C
Alias	Lys124Asn
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From AAG to AAC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.372G>C
	Deduced		c.372G>C	K124N
	Region	EX2	CDS	IC
	Date Added: 01-May-99		ID: 194

Name	c.374T>A
Alias	Val125Asp
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GTC to GAC
Phenotype	CMT1X
htz/hmz	hemizygous
Family History	XD

Lee et al., 2002 References		Genomic	cDNA	Protein
	Observed	c.374T>A
	Deduced		c.374T>A	V125D
	Region	EX2	CDS
	Date Added: 04-Feb-03		ID: 581

Name	c.380T>G
Alias	Ile127Ser
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From ATC to AGC
Phenotype	CMT
htz/hmz	htz or hemizygous
Family History	familial

Vondracek et al., 2005 References		Genomic	cDNA	Protein
	Observed	c.380T>G
	Deduced		c.380T>G	I127S
	Region	EX2	CDS	IC
	Date Added: 16-Jul-04		ID: 682

Name	c.381C>G
Alias	Ile127Met
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From ATC to ATG
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Nicholson et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.381C>G
	Deduced		c.381C>G	I127M
	Region	EX2	CDS	IC
	Date Added: 01-Jul-99		ID: 311

Name	c.382T>C
Alias	Ser128Pro
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TCA to CCA
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.382T>C
	Deduced		c.382T>C	S128P
	Region	EX2	CDS	IC
	Date Added: 01-May-99		ID: 196

Name	c.383C>G
Alias	Ser128X
Description	Point mutation in coding region causing a stop mutation
Codon Change	From TCA to TGA
Phenotype	CMT1
htz/hmz	hemizygous
Family History	-

Yoshihara et al., 2000 Mostacciuolo et al., 2001 References		Genomic	cDNA	Protein
	Observed	c.383C>G
	Deduced		c.383C>G	S128X
	Region	EX2	CDS	IC
	Date Added: 23-Aug-00		ID: 441

Name	c.del11
Alias	Thr130fs
Description	Deletion in coding region causing a frameshift and a stop at codon
Codon Change	From - to -
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Nelis et al., 1996 References		Genomic	cDNA	Protein
	Observed	?
	Deduced		?	T130fsX142
	Region	EX2	CDS	TM3
	Date Added: 01-May-99		ID: 197

Name	c.389C>T
Alias	Thr130Ile
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From ACA to ATA
Phenotype	CMT1/2
htz/hmz	htz or hemizygous
Family History	-

Dubourg et al., 2001 References		Genomic	cDNA	Protein
	Observed	c.389C>T
	Deduced		c.389C>T	T130I
	Region	EX2	CDS	TM3
	Date Added: 16-Jul-04		ID: 689

Name	c.392T>C
Alias	Leu131Pro
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CTG to CCG
Phenotype	CMT1X (+CNS involvement)
htz/hmz	htz or hemizygous
Family History	familial

Nicholson et al., 1998 Ananth, 1999 Luo et al., 2002 References		Genomic	cDNA	Protein
	Observed	c.392T>C
	Deduced		c.392T>C	L131P
	Region	EX2	CDS	TM3
	Date Added: 01-Jul-99		ID: 313

Name	c.393G>A
Alias	Leu131Leu
Description	Point mutation in coding region causing a silent mutation
Codon Change	From CTG to CTA
Phenotype	- (polymorphism)
htz/hmz	htz or hemizygous
Family History	-

Ananth, 1999 References		Genomic	cDNA	Protein
	Observed	c.393G>A
	Deduced		c.393G>A	L131L
	Region	EX2	CDS	TM3
	Date Added: 01-Jul-99		ID: 312

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.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	c.397T>C
Alias	Trp133Arg
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TGG to CGG
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1995 Latour et al., 1997 Rouger et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.397T>C
	Deduced		c.397T>C	W133R
	Region	EX2	CDS	TM3
	Date Added: 01-May-99		ID: 199

Name	c.399G>A
Alias	Trp133X
Description	Point mutation in coding region causing a stop mutation
Codon Change	From TGG to TGA
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Ressot et al., 1996 References		Genomic	cDNA	Protein
	Observed	c.399G>A
	Deduced		c.399G>A	W133X
	Region	EX2	CDS	TM3
	Date Added: 01-May-99		ID: 201

Name	c.399G>T
Alias	Trp133Cys
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TGG to TGT
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Sorour et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.399G>T
	Deduced		c.399G>T	W133C
	Region	EX2	CDS	TM3
	Date Added: 01-May-99		ID: 200

Name	c.401C>A
Alias	Thr134Asn
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From ACC to AAC
Phenotype	Unknown
htz/hmz	htz or hemizygous
Family History	-

Ananth, 1999 References		Genomic	cDNA	Protein
	Observed	c.401C>A
	Deduced		c.401C>A	T134N
	Region	EX2	CDS	TM3
	Date Added: 01-Jul-99		ID: 314

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	GJB1:c.[407T>C]+EGR2:c.[1075C>T]
Alias	GJB1:[Val136Ala]+EGR2:[Arg359Trp]
Description	Point mutation in coding region of EGR2 and GJB1 causing amino acid substitutions
Codon Change	From EGR2:[CGG]+GJB1:[GTC] to EGR2:[TGG]+GJB1:[GCC]
Phenotype	DSS
htz/hmz	digenic
Family History	AD

Chung et al., 2005 References		Genomic	cDNA	Protein
	Observed	GJB1:c.[407T>C]+EGR2:c.[1075C>T]
	Deduced		GJB1:c.[407T>C]+EGR2:c.[1075C>T]	GJB1:[V136A]+EGR2:[R359W]
	Region	EX2 + EX2	CDS	TM3
	Date Added: 11-Dec-06		ID: 725

Name	c.410delT
Alias	Ile137fs
Description	Deletion in coding region causing a frameshift and a stop at codon 195
Codon Change	From - to -
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1995 References		Genomic	cDNA	Protein
	Observed	c.410delT
	Deduced		c.410delT	I137fsX195
	Region	EX2	CDS	TM3
	Date Added: 01-May-99		ID: 203

Name	c.412A>G
Alias	Ser138Gly
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From AGC to GGC
Phenotype	Unknown
htz/hmz	htz or hemizygous
Family History	-

Ananth, 1999 References		Genomic	cDNA	Protein
	Observed	c.412A>G
	Deduced		c.412A>G	S138G
	Region	EX2	CDS	TM3
	Date Added: 01-Jul-99		ID: 315

Name	c.413G>A
Alias	Ser138Asn
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From AGC to AAC
Phenotype	CMT1X / CMT2
htz/hmz	htz
Family History	familial

Huehne et al., 2003 References		Genomic	cDNA	Protein
	Observed	c.413G>A
	Deduced		c.413G>A	S138N
	Region	EX2	CDS	TM3
	Date Added: 04-Feb-03		ID: 617

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.419T>A
Alias	Val 140Glu
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GTG to GAG
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	D

Kleopa et al., 2006 References		Genomic	cDNA	Protein
	Observed	c.419T>A
	Deduced		c.419T>A	V140E
	Region	EX2	CDS	TM3
	Date Added: 13-Mar-07		ID: 856

Name	c.423C>G
Alias	Phe141Leu
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TTC to TTG
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Rouger et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.423C>G
	Deduced		c.423C>G	F141L
	Region	EX2	CDS	TM3
	Date Added: 01-May-99		ID: 205

Name	c.424C>T
Alias	Arg142Trp
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CGG to TGG
Phenotype	CMT1X (+ CNS involvement)
htz/hmz	htz or hemizygous
Family History	-

Bergoffen et al., 1993 Ionasescu et al., 1996 Nelis et al., 1996 Latour et al., 1997 Ionasescu et al., 1999 Williams et al., 1999 Mersiyanova et al., 2000 Young et al., 2001 Paulson et al., 2002 Hattori et al., 2003 Basri et al., 2007 References		Genomic	cDNA	Protein
	Observed	c.424C>T
	Deduced		c.424C>T	R142W
	Region	EX2	CDS	TM3
	Date Added: 01-May-99		ID: 206

Name	c.425G>A
Alias	Arg142Gln
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CGG to CAG
Phenotype	CMT1X (+ deafness)
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1997 Ikegami et al., 1998 Sillibourne et al., 1998 Stojkovic et al., 1999 Williams et al., 1999 Yoshihara et al., 2000 Dubourg et al., 2001 References		Genomic	cDNA	Protein
	Observed	c.425G>A
	Deduced		c.425G>A	R142Q
	Region	EX2	CDS	TM3
	Date Added: 01-May-99		ID: 207

Name	c.428T>C
Alias	Leu143Pro
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CTG to CCG
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	D

Kleopa et al., 2006 References		Genomic	cDNA	Protein
	Observed	c.428T>C
	Deduced		c.428T>C	L143P
	Region	EX2	CDS	TM3
	Date Added: 13-Mar-07		ID: 857

Name	c.432_434delGTT
Alias	Leu144del
Description	Deletion in coding region causing an amino acid deletion
Codon Change	From - to -
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Fairweather et al., 1994 References		Genomic	cDNA	Protein
	Observed	c.432_434delGTT
	Deduced		c.432_434delGGT	L144del
	Region	EX2	CDS	TM3
	Date Added: 01-May-99		ID: 208

Name	c.436G>A
Alias	Glu146Lys
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GAG to AAG
Phenotype	CMT1
htz/hmz	hemizygous
Family History	unknown

Numakura et al., 2002 References		Genomic	cDNA	Protein
	Observed	c.436G>A
	Deduced		c.436G>A	E146K
	Region	EX2	CDS	TM3
	Date Added: 04-Feb-03		ID: 630

Name	c.439delG
Alias	Ala147fs
Description	Deletion in coding region causing a frameshift and a stop at codon 195
Codon Change	From - to -
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	de novo

Meggouh et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.439delG
	Deduced		c.439delG	A147fsX195
	Region	EX2	CDS	TM3
	Date Added: 01-May-99		ID: 209

Name	c.440C>A
Alias	Ala147Asp
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GCC to GAC
Phenotype	CMT1
htz/hmz	hemizygous
Family History	unknown

Numakura et al., 2002 References		Genomic	cDNA	Protein
	Observed	c.440C>A
	Deduced		c.440C>A	A147D
	Region	EX2	CDS	TM3
	Date Added: 04-Feb-03		ID: 631

Name	c.441C>T
Alias	Ala147Ala
Description	Point mutation in coding region causing a silent mutation
Codon Change	From GCC to GCT
Phenotype	- (polymorphism)
htz/hmz	htz or hemizygous
Family History	-

Ananth, 1999 Casasnovas et al., 2006 References		Genomic	cDNA	Protein
	Observed	c.441C>T
	Deduced		c.441C>T	A147A
	Region	EX2	CDS	TM3
	Date Added: 01-Jul-99		ID: 316

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.445T>G
Alias	Phe149Val
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TTC to GTC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Williams et al., 1999 References		Genomic	cDNA	Protein
	Observed	c.445T>G
	Deduced		c.445T>G	F149V
	Region	EX2	CDS	TM3
	Date Added: 01-May-99		ID: 211

Name	c.451T>C
Alias	Tyr151His
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TAT to CAT
Phenotype	CMT1
htz/hmz	hemizygous
Family History	D

Park et al., 2006 References		Genomic	cDNA	Protein
	Observed	c.451T>C
	Deduced		c.451T>C	Y151H
	Region	EX2	CDS	EC2
	Date Added: 29-Nov-07		ID: 915

Name	c.452A>C
Alias	Tyr151Ser
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TAT to TCT
Phenotype	CMT1/2
htz/hmz	htz
Family History	-

Mostacciuolo et al., 1999 References		Genomic	cDNA	Protein
	Observed	c.452A>C
	Deduced		c.452A>C	Y151S
	Region	EX2	CDS	EC2
	Date Added: 12-Jul-99		ID: 351

Name	c.455T>A
Alias	Val152Asp
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GTC to GAC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	XD

Kochanski et al., 2004 References		Genomic	cDNA	Protein
	Observed	c.455T>A
	Deduced		c.455T>A	V152D
	Region	EX2	CDS	EC2
	Date Added: 13-May-04		ID: 409

Name	c.458T>C
Alias	Phe153Ser
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TTT to TCT
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	XD

Lee et al., 2002 References		Genomic	cDNA	Protein
	Observed	c.458T>C
	Deduced		c.458T>C	F153S
	Region	EX2	CDS	EC2
	Date Added: 04-Feb-03		ID: 582

Name	c.459_460delTT
Alias	Phe153fs
Description	Deletion in coding region causing a frameshift and a stop at codon 241
Codon Change	From - to -
Phenotype	CMT1
htz/hmz	htz or hemizygous
Family History	D

Casasnovas et al., 2006 References		Genomic	cDNA	Protein
	Observed	c.459_460delTT
	Deduced		c.459_460delTT	F153fsX241
	Region	EX2	CDS	EC2
	Date Added: 21-Nov-07		ID: 881

Name	c.462T>A
Alias	Tyr154X
Description	Point mutation in coding region causing a stop mutation
Codon Change	From TAT to TAA
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.462T>A
	Deduced		c.462T>A	Y154X
	Region	EX2	CDS	EC2
	Date Added: 01-May-99		ID: 212

Name	c.466_475delCTCTACCCTG
Alias	Leu156fs
Description	Deletion in coding region causing a frameshift
Codon Change	From - to -
Phenotype	CMT1X
htz/hmz	hemizygous
Family History	-

Umehara et al., 2006 References		Genomic	cDNA	Protein
	Observed	c.466_475delCTCTACCCTG
	Deduced		c.466_475delCTCTACCCTG	L156fsX192
	Region	EX2	CDS	EC2
	Date Added: 13-Mar-07		ID: 858

Name	c.466C>T
Alias	Leu156Phe
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	-

Latour et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.466C>T
	Deduced		c.466C>T	L156F
	Region	EX2	CDS	EC2
	Date Added: 01-May-99		ID: 214

Name	c.467T>G
Alias	Leu156Arg
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CTC to CGC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bergoffen et al., 1993 Bone et al., 1995 References		Genomic	cDNA	Protein
	Observed	c.467T>G
	Deduced		c.467T>G	L156R
	Region	EX2	CDS	EC2
	Date Added: 01-May-99		ID: 213

Name	c.470A>G
Alias	Tyr157Cys
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TAC to TGC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.470A>G
	Deduced		c.470A>G	Y157C
	Region	EX2	CDS	EC2
	Date Added: 01-May-99		ID: 215

Name	c.472C>G
Alias	Pro158Ala
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CCT to GCT
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Cherryson et al., 1994 Rouger et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.472C>G
	Deduced		c.472C>G	P158A
	Region	EX2	CDS	EC2
	Date Added: 01-May-99		ID: 216

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.473C>G
Alias	Pro158Arg
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	familial

Bone et al., 1997 Seeman, 2004 References		Genomic	cDNA	Protein
	Observed	c.473C>G
	Deduced		c.473C>G	P158R
	Region	EX2	CDS	EC2
	Date Added: 01-May-99		ID: 217

Name	c.473C>T
Alias	Pro158Leu
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CCT to CTT
Phenotype	Unknown
htz/hmz	htz or hemizygous
Family History	-

Ananth, 1999 References		Genomic	cDNA	Protein
	Observed	c.473C>T
	Deduced		c.473C>T	P158L
	Region	EX2	CDS	EC2
	Date Added: 01-Jul-99		ID: 317

Name	c.474delT
Alias	Pro158fs
Description	Deletion in coding region causing a frameshift and a stop at codon 195
Codon Change	From - to -
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Nicholson et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.474delT
	Deduced		c.474delT	P158fsX195
	Region	EX2	CDS	EC2
	Date Added: 01-Jul-99		ID: 318

Name	c.475G>A
Alias	Gly159Ser
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GGC to AGC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	D

Latour et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.475G>A
	Deduced		c.475G>A	G159S
	Region	EX2	CDS	EC2
	Date Added: 01-May-99		ID: 219

Name	c.476G>A
Alias	Gly159Asp
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GGC to GAC
Phenotype	unspecified CMT
htz/hmz	htz or hemizygous
Family History	-

Dubourg et al., 2001 References		Genomic	cDNA	Protein
	Observed	c.476G>A
	Deduced		c.476G>A	G159D
	Region	EX2	CDS	EC2
	Date Added: 20-Mar-02		ID: 558

Name	c.478T>C
Alias	Tyr160His
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TAT to CAT
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.478T>C
	Deduced		c.478T>C	Y160H
	Region	EX2	CDS	EC2
	Date Added: 01-May-99		ID: 220

Name	c.481G>C
Alias	Ala161Pro
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GCC to CCC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.481G>C
	Deduced		c.481G>C	A161P
	Region	EX2	CDS	EC2
	Date Added: 01-May-99		ID: 221

Name	c.483C>T
Alias	Ala161Ala
Description	Point mutation in coding region causing a silent mutation
Codon Change	From GCC to GCT
Phenotype	- (polymorphism)
htz/hmz	htz or hemizygous
Family History	-

Ananth, 1999 References		Genomic	cDNA	Protein
	Observed	c.483C>T
	Deduced		c.483C>T	A161A
	Region	EX2	CDS	EC2
	Date Added: 01-Jul-99		ID: 319

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.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.499A>G
Alias	Lys167Glu
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From AAG to GAG
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	XD

Kochanski et al., 2004 References		Genomic	cDNA	Protein
	Observed	c.499A>G
	Deduced		c.499A>G	K167E
	Region	EX2	CDS	EC2
	Date Added: 13-May-04		ID: 410

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.503G>A
Alias	Cys168Tyr
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TGC to TAC
Phenotype	CMT1X + transient CNS involvement
htz/hmz	hemizygous
Family History	-

Ananth, 1999 Paulson et al., 2002 References		Genomic	cDNA	Protein
	Observed	c.503G>A
	Deduced		c.503G>A	C168Y
	Region	EX2	CDS	EC2
	Date Added: 01-Jul-99		ID: 320

Name	c.504C>A
Alias	Cys168X
Description	Point mutation in coding region causing a stop mutation
Codon Change	From TGC to TGA
Phenotype	Unknown
htz/hmz	htz or hemizygous
Family History	-

Shy, 1998 References		Genomic	cDNA	Protein
	Observed	c.504C>A
	Deduced		c.504C>A	C168X
	Region	EX2	CDS	EC2
	Date Added: 01-Jul-99		ID: 321

Name	c.507C>T
Alias	Asp169Asp
Description	Point mutation in coding region causing a silent mutation
Codon Change	From GAC to GAT
Phenotype	- (polymorphism)
htz/hmz	htz or hemizygous
Family History	-

Ananth, 1999 Bissar-Tadmouri et al., 2000 Casasnovas et al., 2006 References		Genomic	cDNA	Protein
	Observed	c.507C>T
	Deduced		c.507C>T	D169D
	Region	EX2	CDS	EC2
	Date Added: 01-Jul-99		ID: 322

Name	c.514C>G
Alias	Pro172Ala
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CCC to GCC
Phenotype	CMT1X / CMT2
htz/hmz	htz or hemizygous
Family History	familial

Huehne et al., 2003 References		Genomic	cDNA	Protein
	Observed	c.514C>G
	Deduced		c.514C>G	P172A
	Region	EX2	CDS	EC2
	Date Added: 04-Feb-03		ID: 618

Name	c.514C>T
Alias	Pro172Ser
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CCC to TCC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bergoffen et al., 1993 References		Genomic	cDNA	Protein
	Observed	c.514C>T
	Deduced		c.514C>T	P172S
	Region	EX2	CDS	EC2
	Date Added: 01-May-99		ID: 225

Name	c.515C>G
Alias	Pro172Arg
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CCC to CGC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Yoshimura et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.515C>G
	Deduced		c.515C>G	P172R
	Region	EX2	CDS	EC2
	Date Added: 01-Jul-99		ID: 323

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.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.518G>A
Alias	Cys173Tyr
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TGC to TAC
Phenotype	Unknown
htz/hmz	htz or hemizygous
Family History	-

Williams, 2000 References		Genomic	cDNA	Protein
	Observed	c.518G>A
	Deduced		c.518G>A	C173Y
	Region	EX2	CDS	EC2
	Date Added: 15-Nov-00		ID: 468

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.524_525insA
Alias	Asn175fs
Description	Insertion in coding region causing a frameshift and a stop at codon 242
Codon Change	From - to -
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bergoffen et al., 1993 References		Genomic	cDNA	Protein
	Observed	c.524_525insA
	Deduced		c.524_525insA	N175fsX242
	Region	EX2	CDS	EC2
	Date Added: 01-May-99		ID: 228

Name	c.526A>C
Alias	Thr176Pro
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From ACA to CCA
Phenotype	CMT1X
htz/hmz	htz
Family History	-

Williams, 2000 References		Genomic	cDNA	Protein
	Observed	c.526A>C
	Deduced		c.526A>C	T176P
	Region	EX2	CDS	EC2
	Date Added: 15-Nov-00		ID: 469

Name	c.530T>A
Alias	Val177Glu
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GTG to GAG
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Williams et al., 1999 References		Genomic	cDNA	Protein
	Observed	c.530T>A
	Deduced		c.530T>A	V177E
	Region	EX2	CDS	EC2
	Date Added: 01-May-99		ID: 229

Name	c.530T>C
Alias	Val177Ala
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GTG to GCG
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Ikegami et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.530T>C
	Deduced		c.530T>C	V177A
	Region	EX2	CDS	EC2
	Date Added: 01-May-99		ID: 230

Name	c.532G>T
Alias	Asp178Tyr
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GAC to TAC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.532G>T
	Deduced		c.532G>T	D178Y
	Region	EX2	CDS	EC2
	Date Added: 01-May-99		ID: 231

Name	c.535T>C
Alias	Cys179Arg
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	-

Bone et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.535T
	Deduced		c.535T	C179R
	Region	EX2	CDS	EC2
	Date Added: 01-May-99		ID: 232

Name	c.536G>A
Alias	Cys179Tyr
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TGC to TAC
Phenotype	unspecified CMT
htz/hmz	htz or hemizygous
Family History	D

Casasnovas et al., 2006 References		Genomic	cDNA	Protein
	Observed	c.536G>A
	Deduced		c.536G>A	C179Y
	Region	EX2	CDS	EC2
	Date Added: 21-Nov-07		ID: 882

Name	c.538T>C
Alias	Phe180Leu
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TTC to CTC
Phenotype	CMT1
htz/hmz	hemizygous
Family History	familial

Park et al., 2006 References		Genomic	cDNA	Protein
	Observed	c.538T>C
	Deduced		c.538T>C	F180L
	Region	EX2	CDS	EC2
	Date Added: 29-Nov-07		ID: 916

Name	c.539T>C
Alias	Phe180Ser
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TTC to TCC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Ionasescu et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.539T>C
	Deduced		c.539T>C	F180S
	Region	EX2	CDS	EC2
	Date Added: 01-Jul-99		ID: 324

Name	c.540C>G
Alias	Phe180Leu
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TTC to TTG
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.540C>G
	Deduced		c.540C>G	F180L
	Region	EX2	CDS	EC2
	Date Added: 01-May-99		ID: 233

Name	c.541G>A
Alias	Val181Met
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	-

Bone et al., 1997 Casasnovas et al., 2006 References		Genomic	cDNA	Protein
	Observed	c.541G>A
	Deduced		c.541G>A	V181M
	Region	EX2	CDS	EC2
	Date Added: 01-May-99		ID: 234

Name	c.542T>C
Alias	Val181Ala
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GTG to GCG
Phenotype	CMT1X
htz/hmz	hemizygous
Family History	familial

Abrams et al., 2003 References		Genomic	cDNA	Protein
	Observed	c.542T>C
	Deduced		c.542T>C	V181A
	Region	EX2	CDS	EC2
	Date Added: 10-Jun-05		ID: 740

Name	c.544T>A
Alias	Ser182Thr
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TCC to ACC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Cherryson et al., 1994 References		Genomic	cDNA	Protein
	Observed	c.544T>A
	Deduced		c.544T>A	S182T
	Region	EX2	CDS	EC2
	Date Added: 01-May-99		ID: 235

Name	c.547C>A
Alias	Arg183Ser
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CGC to AGC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bort et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.547C>A
	Deduced		c.547C>A	R183S
	Region	EX2	CDS	EC2
	Date Added: 01-May-99		ID: 238

Name	c.547C>T
Alias	Arg183Cys
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CGC to TGC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	XD

Bone et al., 1997 Bort et al., 1997 Hahn et al., 2001 Seeman, 2004 References		Genomic	cDNA	Protein
	Observed	c.547C>T
	Deduced		c.547C>T	R183C
	Region	EX2	CDS	EC2
	Date Added: 01-May-99		ID: 236

Name	c.548G>A
Alias	Arg183His
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CGC to CAC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	XD

Bone et al., 1997 Bort et al., 1997 Jianfeng et al., 1999 Mostacciuolo et al., 1999 Mersiyanova et al., 2000 Kochanski et al., 2004 Casasnovas et al., 2006 References		Genomic	cDNA	Protein
	Observed	c.548G>A
	Deduced		c.548G>A	R183H
	Region	EX2	CDS	EC2
	Date Added: 01-May-99		ID: 237

Name	c.551C>G
Alias	Pro184Arg
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CCC to CGC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Latour et al., 1997 Young et al., 2001 References		Genomic	cDNA	Protein
	Observed	c.551G>C
	Deduced		c.551G>C	P184R
	Region	EX2	CDS	EC2
	Date Added: 01-May-99		ID: 239

Name	c.551C>T
Alias	Pro184Leu
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CCC to CTC
Phenotype	CMT1/2
htz/hmz	htz
Family History	-

Mostacciuolo et al., 1999 References		Genomic	cDNA	Protein
	Observed	c.551C>T
	Deduced		c.551C>T	P184L
	Region	EX2	CDS	EC2
	Date Added: 12-Jul-99		ID: 352

Name	c.553_555delACC
Alias	Thr185del
Description	Deletion in coding region causing an amino acid deletion
Codon Change	From - to -
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.553_555delACC
	Deduced		c.553_555delACC	T185del
	Region	EX2	CDS	EC2
	Date Added: 01-May-99		ID: 240

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.556G>T
Alias	Glu186X
Description	Point mutation in coding region causing a stop mutation
Codon Change	From GAG to TAG
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Ionasescu et al., 1996 References		Genomic	cDNA	Protein
	Observed	c.556G>T
	Deduced		c.556G>T	E186X
	Region	EX2	CDS	EC2
	Date Added: 01-May-99		ID: 242

Name	c.556_557insG
Alias	Glu186fs
Description	Insertion in coding region causing a frameshift and a stop at codon 242
Codon Change	From - to -
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Ionasescu et al., 1996 References		Genomic	cDNA	Protein
	Observed	c.556_557insG
	Deduced		c.556_557insG	E186fsX242
	Region	EX2	CDS	EC2
	Date Added: 01-May-99		ID: 243

Name	c.559A>G
Alias	Lys187Glu
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From AAA to GAA
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.559A>G
	Deduced		c.559A>G	K187E
	Region	EX2	CDS	EC2
	Date Added: 01-May-99		ID: 244

Name	c.561_569insAACCGTCTT
Alias	Val189_Phe190insLeuThrVal
Description	Insertion in coding region causing an insertion of 3 amino acids
Codon Change	From - to -
Phenotype	CMT1X
htz/hmz	hemizygous
Family History	XD

Keckarevic-Markovic, 2007 References		Genomic	cDNA	Protein
	Observed	c.561_569insAACCGTCTT
	Deduced		c.561_569insAACCGTCTT	V189_L190insLTV
	Region	EX2	CDS	TM4
	Date Added: 05-Mar-07		ID: 845

Name	c.562A>G
Alias	Thr188Ala
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From ACC to GCC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Jianfeng et al., 1999 References		Genomic	cDNA	Protein
	Observed	c.562A>G
	Deduced		c.562A>G	T188A
	Region	EX2	CDS	TM4
	Date Added: 01-Jul-99		ID: 325

Name	c.565G>A
Alias	Val189Ile
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GTC to ATC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.565G>A
	Deduced		c.565G>A	V189I
	Region	EX2	CDS	TM4
	Date Added: 01-May-99		ID: 246

Name	c.566T>G
Alias	Val189Gly
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GTC to GGC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.566T>G
	Deduced		c.566T>G	V189G
	Region	EX2	CDS	TM4
	Date Added: 01-May-99		ID: 245

Name	c.571A>G
Alias	Thr191Ala
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From ACC to GCC
Phenotype	CMT1X
htz/hmz	hemizygous
Family History	-

Kobari et al., 2000 References		Genomic	cDNA	Protein
	Observed	c.571A>G
	Deduced		c.571A>G	T191A
	Region	EX2	CDS	TM4
	Date Added: 28-Jun-01		ID: 486

Name	c.571_579dupACCGTCTTC
Alias	Thr191_Phe193dup
Description	Insertion in coding region causing duplication of 3 amino acids
Codon Change	From to
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	D

Vazza et al., 2006 References		Genomic	cDNA	Protein
	Observed	c.571_579dupACCGTCTTC
	Deduced		c.571_579dupACCGTCTTC	T191_F193dup
	Region	EX2	CDS	TM4
	Date Added: 12-Dec-06		ID: 834

Name	c.572_580delCCGTCTTCA
Alias	Thr191_Phe193del
Description	Deletion in coding region causing an amino acid deletion
Codon Change	From - to -
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.572_580delCCGTCTTCA
	Deduced		c.572_580delCCGTCTTCA	T191_F193del
	Region	EX2	CDS	TM4
	Date Added: 13-Jun-05		ID: 741

Name
Alias	Thr191fs
Description
Codon Change	From - to -
Phenotype	CMT1X (+CNS involvement)
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1997 Lee et al., 2002 References		Genomic	cDNA	Protein
	Observed
	Deduced			T191fs
	Region	EX2	CDS	TM4
	Date Added: 01-May-99		ID: 247

Name	c.574G>T
Alias	Val192Phe
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GTC to TTC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Nicholson et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.574G>T
	Deduced		c.574G>T	V192F
	Region	EX2	CDS	TM4
	Date Added: 01-Jul-99		ID: 326

Name	c.578T>G
Alias	Phe193Cys
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TTC to TGC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.578T>G
	Deduced		c.578T>G	F193C
	Region	EX2	CDS	TM4
	Date Added: 01-May-99		ID: 249

Name	c.579C>G
Alias	Phe193Leu
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TTC to TTG
Phenotype	CMT1
htz/hmz	htz
Family History	-

Mersiyanova et al., 2000 References		Genomic	cDNA	Protein
	Observed	c.579C>G
	Deduced		c.579C>G	F193L
	Region	EX2	CDS	TM4
	Date Added: 09-Jul-99		ID: 347

Name	c.580A>G
Alias	Met194Val
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From ATG to GTG
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Silander et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.580A>G
	Deduced		c.580A>G	M194V
	Region	EX2	CDS	TM4
	Date Added: 01-May-99		ID: 250

Name	c.593C>T
Alias	Ser198Phe
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TCT to TTT
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.593C>T
	Deduced		c.593C>T	S198F
	Region	EX2	CDS	TM4
	Date Added: 01-May-99		ID: 251

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

Name	c.595G>C
Alias	Gly199Arg
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GGC to CGC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Janssen et al., 1997 Dubourg et al., 2001 References		Genomic	cDNA	Protein
	Observed	c.595G>C
	Deduced		c.595G>C	G199R
	Region	EX2	CDS	TM4
	Date Added: 01-May-99		ID: 252

Name	c.601T>C
Alias	Cys201Arg
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	-

Bone et al., 1997 Sillén et al., 1998 Casasnovas et al., 2006 References		Genomic	cDNA	Protein
	Observed	c.601T>C
	Deduced		c.601T>C	C201R
	Region	EX2	CDS	TM4
	Date Added: 01-May-99		ID: 253

Name	c.602G>A
Alias	Cys201Tyr
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TGC to TAC
Phenotype	CMT1/2
htz/hmz	htz or hemizygous
Family History	-

Hattori et al., 2003 References		Genomic	cDNA	Protein
	Observed	c.602G>A
	Deduced		c.602G>A	C201Y
	Region	EX2	CDS	TM4
	Date Added: 16-Jul-04		ID: 686

Name	c.602G>T
Alias	Cys201Phe
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TGC to TTC
Phenotype	CMT1
htz/hmz	htz or hemizygous
Family History	D

Casasnovas et al., 2006 References		Genomic	cDNA	Protein
	Observed	c.602G>T
	Deduced		c.602G>T	C201F
	Region	EX2	CDS	TM4
	Date Added: 21-Nov-07		ID: 883

Name	c.608T>A
Alias	Ile203Asn
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	-

Rouger et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.608T>A
	Deduced		c.608T>A	I203N
	Region	EX2	CDS	TM4
	Date Added: 01-May-99		ID: 254

Name	c.610C>G
Alias	Leu204Val
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CTC to GTC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.610C>G
	Deduced		c.610C>G	L204V
	Region	EX2	CDS	TM4
	Date Added: 01-May-99		ID: 255

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

Name	c.614A>G
Alias	Asn205Ser
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From AAT to AGT
Phenotype	CMT1X (+ CNS involvement)
htz/hmz	htz or hemizygous
Family History	familial

Bone et al., 1997 Rouger et al., 1997 Sorour et al., 1998 Bähr et al., 1999 Huehne et al., 2003 References		Genomic	cDNA	Protein
	Observed	c.614A>G
	Deduced		c.614A>G	N205S
	Region	EX2	CDS	TM4
	Date Added: 01-May-99		ID: 257

Name	c.614A>T
Alias	Asn205Ile
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From AAT to ATT
Phenotype	CMT2 + deafness
htz/hmz	htz or hemizygous
Family History	XD

Boerkoel et al., 2002 References		Genomic	cDNA	Protein
	Observed	c.614A>T
	Deduced		c.614A>T	N205I
	Region	EX2	CDS	TM4
	Date Added: 01-Jul-99		ID: 327

Name	c.617_618insT
Alias	Val206fs
Description	Insertion in coding region causing a frameshift and a stop at codon 242
Codon Change	From - to -
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	familial

Senderek et al., 1999 Seeman, 2004 References		Genomic	cDNA	Protein
	Observed	c.617_618insT
	Deduced		c.617_618insT	V206fsX242
	Region	EX2	CDS	TM4
	Date Added: 01-Jul-99		ID: 328

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.623A>G
Alias	Glu208Gly
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GAG to GGG
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	XD

Kochanski et al., 2001 References		Genomic	cDNA	Protein
	Observed	c.623A>G
	Deduced		c.623A>G	E208G
	Region	EX2	CDS	C
	Date Added: 20-Jul-01		ID: 533

Name	c.628_630delGTG
Alias	Val210del
Description	Deletion in coding region causing an amino acid deletion
Codon Change	From - to -
Phenotype	CMT1
htz/hmz	hemizygous
Family History	unknown

Numakura et al., 2002 References		Genomic	cDNA	Protein
	Observed	c.628_630delGTG
	Deduced		c.628_630delGTG	V210del
	Region	EX2	CDS	C
	Date Added: 04-Feb-03		ID: 632

Name	c.631T>C
Alias	Tyr211His
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TAC to CAC
Phenotype	CMT1
htz/hmz	htz or hemizygous
Family History	D

Bissar-Tadmouri et al., 2000 Casasnovas et al., 2006 References		Genomic	cDNA	Protein
	Observed	c.631T>C
	Deduced		c.631T>C	Y211H
	Region	EX2	CDS	C
	Date Added: 28-Jun-01		ID: 507

Name	c.633C>A
Alias	Tyr211X
Description	Point mutation in coding region causing a stop mutation
Codon Change	From TAC to TAA
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Tan et al., 1996 References		Genomic	cDNA	Protein
	Observed	c.633C>A
	Deduced		c.633C>A	Y211X
	Region	EX2	CDS	C
	Date Added: 01-May-99		ID: 259

Name	c.633delC
Alias	Leu212fs
Description	Deletion in coding region causing a frameshift and a stop at codon 252
Codon Change	From - to -
Phenotype	CMT1
htz/hmz	htz or hemizygous
Family History	D

Casasnovas et al., 2006 References		Genomic	cDNA	Protein
	Observed	c.633delC
	Deduced		c.633delC	L212fsX252
	Region	EX2	CDS	C
	Date Added: 26-Nov-07		ID: 884

Name	c.634C>T
Alias	Leu212Phe
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CTC to TTC
Phenotype	CMT
htz/hmz	hemizygous
Family History	de novo

Seeman et al., 2004 References		Genomic	cDNA	Protein
	Observed	c.634C>T
	Deduced		c.634C>T	L212F
	Region	EX2	CDS	C
	Date Added: 16-Jul-04		ID: 680

Name	c.637_640delATCAinsC
Alias	Ile213_Ile214delinsLeu
Description	Deletion and insertion in coding region causing deletion of 2 amino acids and insertion of 1 amino acid
Codon Change	From - to -
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Rouger et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.[637_640delATCAinsC]
	Deduced		c.[637_640delATCAinsC]	I213_I214delinsL
	Region	EX2	CDS	C
	Date Added: 01-May-99		ID: 260

Name	c.637A>G
Alias	Ile213Val
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From ATC to GTC
Phenotype	Unknown
htz/hmz	htz or hemizygous
Family History	-

Ananth, 1999 References		Genomic	cDNA	Protein
	Observed	c.637A>G
	Deduced		c.637A>G	I213V
	Region	EX2	CDS	C
	Date Added: 01-Jul-99		ID: 329

Name	c.641T>A
Alias	Ile214Asn
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From ATC to AAC
Phenotype	CMT1/2
htz/hmz	htz
Family History	D

Casasnovas et al., 2006 References		Genomic	cDNA	Protein
	Observed	c.641T>A
	Deduced		c.641T>A	I214N
	Region	EX2	CDS	C
	Date Added: 21-Nov-07		ID: 879

Name	c.643C>T
Alias	Arg215Trp
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	familial

Fairweather et al., 1994 Ressot et al., 1996 Bort et al., 1997 Dubourg et al., 2001 Young et al., 2001 Boerkoel et al., 2002 Seeman, 2004 Song et al., 2006 References		Genomic	cDNA	Protein
	Observed	c.643C>T
	Deduced		c.643C>T	R215W
	Region	EX2	CDS	C
	Date Added: 01-May-99		ID: 261

Name	c.651T>A
Alias	Cys217X
Description	Point mutation in coding region causing a stop mutation
Codon Change	From TGT to TGA
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Ionasescu et al., 1996 Hahn et al., 1999 References		Genomic	cDNA	Protein
	Observed	c.651T>A
	Deduced		c.651T>A	C217X
	Region	EX2	CDS	C
	Date Added: 01-May-99		ID: 262

Name	c.655C>T
Alias	Arg219Cys
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CGC to TGC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.655C>T
	Deduced		c.655C>T	R219C
	Region	EX2	CDS	C
	Date Added: 01-May-99		ID: 263

Name	c.656G>A
Alias	Arg219His
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CGC to CAC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.656G>A
	Deduced		c.656G>A	R219H
	Region	EX2	CDS	C
	Date Added: 01-May-99		ID: 264

Name	c.658C>G
Alias	Arg220Gly
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CGA to GGA
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.658C>G
	Deduced		c.658C>G	R220G
	Region	EX2	CDS	C
	Date Added: 01-May-99		ID: 265

Name	c.658C>G+CMT1A duplication
Alias	Arg220Gly + CMT1A duplication
Description	Point mutation in coding region of GJB1 causing an amino acid substitution and a CMT1A duplication
Codon Change	From GGT to AGT
Phenotype	CMT1-severe
htz/hmz	digenic
Family History	familial

Hodapp et al., 2006 References		Genomic	cDNA	Protein
	Observed	c.658C>G+CMT1A duplication
	Deduced		c.658C>G+CMT1A duplication	R220G + CMT1A duplication
	Region	EX2	CDS	C
	Date Added: 27-Nov-07		ID: 899

Name	c.658C>T
Alias	Arg220X
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	XR

Fairweather et al., 1994 Bone et al., 1995 Ionasescu et al., 1996 Niewiadomski et al., 1996 Wolfe et al., 1996 Rouger et al., 1997 Williams et al., 1999 References		Genomic	cDNA	Protein
	Observed	c.658C>T
	Deduced		c.658C>T	R220X
	Region	EX2	CDS	C
	Date Added: 01-May-99		ID: 266

Name	c.688C>T
Alias	Arg230Cys
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CGC to TGC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.688C>T
	Deduced		c.688C>T	R230C
	Region	EX2	CDS	C
	Date Added: 01-May-99		ID: 267

Name	c.689G>T
Alias	Arg230Leu
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CGC to CTC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.689G>T
	Deduced		c.689G>T	R230L
	Region	EX2	CDS	C
	Date Added: 01-May-99		ID: 268

Name	c.704T>G
Alias	Phe235Cys
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TTC to TGC
Phenotype	CMT1X (severe)
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1997 Liang et al., 2005 References		Genomic	cDNA	Protein
	Observed	c.704T>G
	Deduced		c.704T>G	F235C
	Region	EX2	CDS	C
	Date Added: 01-May-99		ID: 269

Name	c.713G>A
Alias	Arg238His
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CGC to CAC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Nelis et al., 1997 Takashima et al., 2001 References		Genomic	cDNA	Protein
	Observed	c.713G>A
	Deduced		c.713G>A	R238H
	Region	EX2	CDS	C
	Date Added: 01-May-99		ID: 270

Name	c.715C>A
Alias	Leu239Ile
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CTC to ATC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Nicholson et al., 1998 References		Genomic	cDNA	Protein
	Observed	c.715C>A
	Deduced		c.715C>A	L239I
	Region	EX2	CDS	C
	Date Added: 01-Jul-99		ID: 330

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

Name	c.790C>T
Alias	Arg264Cys
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CGC to TGC
Phenotype	CMT2
htz/hmz	hemizygous
Family History	unknown

Numakura et al., 2002 References		Genomic	cDNA	Protein
	Observed	c.790C>T
	Deduced		c.790C>T	R264C
	Region	EX2	CDS	C
	Date Added: 04-Feb-03		ID: 633

Name	c.793_821del29
Alias	Arg265fs
Description	Deletion in coding region causing a frameshift and a stop at codon 265
Codon Change	From - to -
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Ionasescu et al., 1996 References		Genomic	cDNA	Protein
	Observed	c.793_821del
	Deduced		c.793_821del	R265fsX265
	Region	EX2	CDS	C
	Date Added: 01-May-99		ID: 272

Name	c.del7
Alias	Pro267fs
Description	Deletion in coding region causing a frameshift and a stop at codon 345
Codon Change	From - to -
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Bone et al., 1997 References		Genomic	cDNA	Protein
	Observed	?
	Deduced		?	P267fsX345
	Region	EX2	CDS	C
	Date Added: 01-May-99		ID: 273

Name	c.838T>G
Alias	Cys280Gly
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From TGC to GGC
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Castro et al., 1999 References		Genomic	cDNA	Protein
	Observed	c.838T>G
	Deduced		c.838T>G	C280G
	Region	EX2	CDS	C
	Date Added: 15-Dec-99		ID: 423

Name	c.841_845delTCGGC
Alias	Ser281fs
Description	Deletion in coding region causing a frameshift and a stop at codon 336
Codon Change	From - to -
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Latour et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.841_845delTCGGC
	Deduced		c.841_845delTCGGC	281fsX336
	Region	EX2	CDS	C
	Date Added: 01-May-99		ID: 275

Name	c.842C>A
Alias	Ser281X
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	-

Nelis et al., 1997 References		Genomic	cDNA	Protein
	Observed	c.842C>A
	Deduced		c.842C>A	S281X
	Region	EX2	CDS	C
	Date Added: 01-May-99		ID: 274

Name	?
Alias	Ala282fs
Description
Codon Change	From - to -
Phenotype	CMT1/2
htz/hmz	htz or hemizygous
Family History	-

Hattori et al., 2003 References		Genomic	cDNA	Protein
	Observed	?
	Deduced		?	A282fs
	Region	EX2	CDS	C
	Date Added: 16-Jul-04		ID: 687

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

Name
Alias	Complex rearrangement
Description	Complex rearrangement
Codon Change	From - to -
Phenotype	CMT1X
htz/hmz	htz or hemizygous
Family History	-

Rouger et al., 1997 References		Genomic	cDNA	Protein
	Observed	Complex rearrangement
	Deduced		Complex rearrangement
	Region	EX2	CDS
	Date Added: 01-May-99		ID: 276

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