Inherited Peripheral Neuropathies Mutation Database

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IPN Mutations

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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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