Inherited Peripheral Neuropathies Mutation Database

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IPN Mutations

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Mutations in MPZ (P0)

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





























































































































Name c.24C>T
Alias Ser8Ser
Description Point mutation in coding region causing a silent mutation
Codon Change From TCC to TCT
Phenotype - (polymorphism)
htz/hmz htz
Family History -

Grskovic et al., 2002
References

Genomic cDNA Protein
Observed c.24C>T
Deduced c.24C>T S8S
Region EX1 CDS signal peptide
Date Added: 25-Nov-02 ID: 573

Name c.59C>T
Alias Ser20Phe
Description Point mutation in coding region causing an amino acid substitution
Codon Change From TCT to TTT
Phenotype CMT2
htz/hmz htz
Family History isolated

Finsterer et al., 2006
References

Genomic cDNA Protein
Observed c.59C>T
Deduced c.59C>T S20F
Region EX1 CDS leader peptide
Date Added: 09-Mar-07 ID: 849

Name c.88_90delATCinsGGGGTTTACACC
Alias Ile30delinsGlyValTyrThr
Description Deletion and insertion in coding region causing deletion of 1 amino acid and insertion of 3 amino acids
Codon Change From - to -
Phenotype CMT1
htz/hmz htz
Family History -

Bissar-Tadmouri et al., 1999
References

Genomic cDNA Protein
Observed c.88_90delATCinsGGGGTTTACACC
Deduced c.88_90delATCinsGGGGTTTACACC I30delinsGVYT
Region EX2 CDS EC
Date Added: 08-Jul-99 ID: 340

Name c.89T>C
Alias Ile30Thr
Description Point mutation in coding region causing an amino acid substitution
Codon Change From ATC to ACC
Phenotype DSS
htz/hmz htz
Family History D

Floroskufi et al., 2007
References

Genomic cDNA Protein
Observed c.89T>C
Deduced c.89T>C T30T
Region EX2 CDS EC
Date Added: 09-Mar-07 ID: 851

Name c.90C>G
Alias Ile30Met
Description Point mutation in coding region causing an amino acid substitution
Codon Change From ATC to ATG
Phenotype CMT1
htz/hmz htz
Family History -

Hayasaka et al., 1993
References

Genomic cDNA Protein
Observed c.90C>G
Deduced c.90C>G I30M
Region EX2 CDS EC
Date Added: 01-May-99 ID: 39

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

Haites et al., 1998
Yoshihara et al., 2000
References

Genomic cDNA Protein
Observed c.94G>T
Deduced c.94G>T V32F
Region EX2 CDS EC
Date Added: 01-May-99 ID: 40

Name c.101C>T
Alias Thr34Ile
Description Point mutation in coding region causing an amino acid substitution
Codon Change From ACC to ATC
Phenotype CMT1
htz/hmz htz
Family History -

Gabreëls-Festen et al., 1996
References

Genomic cDNA Protein
Observed c.101C>T
Deduced c.101C>T T34I
Region EX2 CDS EC
Date Added: 01-May-99 ID: 41

Name c.103G>T
Alias Asp35Tyr
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GAC to TAC
Phenotype CMT1/2
htz/hmz htz
Family History AD

Mastaglia et al., 1999
Hattori et al., 2003
References

Genomic cDNA Protein
Observed c.103G>T c.103G>T
Deduced D35Y
Region EX2 CDS EC
Date Added: 22-Jul-99 ID: 353

Name c.106A>T
Alias Arg36Trp
Description Point mutation in coding region causing an amino acid substitution
Codon Change From AGG to TGG
Phenotype CMT2 + pain
htz/hmz htz
Family History D

Burns et al., 2006
References

Genomic cDNA Protein
Observed c.106A>T
Deduced c.106A>T R36W
Region EX2 CDS EC
Date Added: 12-Dec-06 ID: 831

Name c.116A>C
Alias His39Pro
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CAT to CCT
Phenotype CMT1/2 (+ hearing loss + restless legs)
htz/hmz htz
Family History AD

Shy et al., 2004
Kilfoyle et al., 2006
Souayah et al., 2007
References

Genomic cDNA Protein
Observed c.116A>C
Deduced c.116A>C H39P
Region EX2 CDS EC
Date Added: 21-Jun-04 ID: 666

Name c.[123_125delTGT]+[661G>A]
Alias [Val42del]+[Ala221Thr]
Description Deletion in coding region causing an amino acid deletion and point mutation in coding region causing an amino acid substitution
Codon Change From [-] + [GCA] to [-]+[ACA]
Phenotype DSS
htz/hmz compound htz
Family History isolated

Planté-Bordeneuve, 2001
References

Genomic cDNA Protein
Observed c.[123_125delTGT]+[661G>A]
Deduced c.[123_125delTGT]+[661G>A] [V42del]+[A221T]
Region EX2+EX6 CDS EC+IC
Date Added: 11-Dec-03 ID: 376

Name c.131C>T
Alias Ser44Phe
Description Point mutation in coding region causing an amino acid substitution
Codon Change From TCC to TTC
Phenotype CMT2
htz/hmz htz
Family History -

Marrosu et al., 1997
Shy et al., 2004
References

Genomic cDNA Protein
Observed c.131C>T
Deduced c.131C>T S44F
Region EX2 CDS EC
Date Added: 01-May-99 ID: 42

Name c.134G>A
Alias Arg45Gln
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CGG to CAG
Phenotype - (polymorphism)
htz/hmz htz
Family History -

Muglia et al., 2000
References

Genomic cDNA Protein
Observed c.134G>A
Deduced c.134G>A R45Q
Region EX2 CDS EC
Date Added: 21-Feb-00 ID: 429

Name c.143T>C
Alias Leu48Pro
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CTG to CCG
Phenotype CMT1
htz/hmz htz
Family History D

Szabo et al., 2005
References

Genomic cDNA Protein
Observed c.143T>C
Deduced c.143T>C L48P
Region EX2 CDS EC
Date Added: 12-Dec-06 ID: 832

Name c.149_175del27
Alias Cys50_Val58del
Description Deletion in coding region causing three amino acids deletion
Codon Change From - to -
Phenotype CMT1
htz/hmz htz
Family History D

Shy et al., 2004
References

Genomic cDNA Protein
Observed c.149_175del27
Deduced c.149_175del27 C50_V58del
Region EX2 CDS EC
Date Added: 21-Jun-04 ID: 667

Name c.152C>T
Alias Ser51Phe
Description Point mutation in coding region causing an amino acid substitution
Codon Change From TCC to TTC
Phenotype CMT1
htz/hmz htz
Family History -

Young et al., 2001
References

Genomic cDNA Protein
Observed c.152C>T
Deduced c.152C>T S51F
Region EX2 CDS EC
Date Added: 28-Jun-01 ID: 489

Name c.160T>C
Alias Ser54Pro
Description Point mutation in coding region causing an amino acid substitution
Codon Change From TCC to CCC
Phenotype CMT1
htz/hmz htz
Family History -

Bissar-Tadmouri et al., 1999
References

Genomic cDNA Protein
Observed c.160T>C
Deduced c.160T>C S54P
Region EX2 CDS EC
Date Added: 07-Jul-99 ID: 339

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

Haites et al., 1998
References

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

Name c.166G>A
Alias Glu56Lys
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GAG to AAG
Phenotype CMT2
htz/hmz htz
Family History -

Kochanski et al., 2004
References

Genomic cDNA Protein
Observed c.166G>A
Deduced c.166G>A E56K
Region EX2 CDS EC
Date Added: 13-May-04 ID: 412

Name c.172G>T
Alias Val58Phe
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GTC to TTC
Phenotype CMT1
htz/hmz htz
Family History de novo

Sorour et al., 1998
References

Genomic cDNA Protein
Observed c.172G>T
Deduced c.172G>T V58F
Region EX2 CDS EC
Date Added: 01-May-99 ID: 44

Name c.173T>A
Alias Val58Asp
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GAC to GAC
Phenotype CMT1
htz/hmz htz
Family History familial

Lee et al., 2004
References

Genomic cDNA Protein
Observed c.173T>A
Deduced c.173T>A V58D
Region EX2 CDS EC
Date Added: 22-Jun-04 ID: 670

Name c.178G>C
Alias Asp60His
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GAT to CAT
Phenotype CMT2
htz/hmz htz
Family History AD

Auer-Grumbach et al., 2003
References

Genomic cDNA Protein
Observed c.178G>C
Deduced c.178G>C D60H
Region EX2 CDS EC
Date Added: 13-May-04 ID: 415

Name c.181G>A
Alias Asp61Asn
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GAC to AAC
Phenotype CMT1/2
htz/hmz -
Family History isolated

Bellone et al., 2001
References

Genomic cDNA Protein
Observed c.181G>A
Deduced c.181G>A D61N
Region EX2 CDS EC
Date Added: 28-Jun-01 ID: 506

Name c.182A>G
Alias Asp61Gly
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GAC to GGC
Phenotype CMT2
htz/hmz htz
Family History -

Senderek et al., 2000
References

Genomic cDNA Protein
Observed c.182A>G
Deduced c.182A>G D61G
Region EX2 CDS EC
Date Added: 06-Jul-99 ID: 332

Name c.184A>T
Alias Ile62Phe
Description Point mutation in coding region causing an amino acid substitution
Codon Change From ATC to TTC
Phenotype CMT1 with focally folded myelin
htz/hmz htz
Family History -

Nakagawa et al., 1999
References

Genomic cDNA Protein
Observed c.184A>T
Deduced c.184A>T I62F
Region EX2 CDS EC
Date Added: 01-May-99 ID: 45

Name c.186C>G
Alias Ile62Met
Description Point mutation in coding region causing an amino acid substitution
Codon Change From ATC to ATG
Phenotype CMT2
htz/hmz htz
Family History isolated

Auer-Grumbach et al., 2003
References

Genomic cDNA Protein
Observed c.186C>G
Deduced c.186C>G I62M
Region EX2 CDS EC
Date Added: 13-May-04 ID: 416

Name c.188C>G
Alias Ser63Cys
Description Point mutation in coding region causing an amino acid substitution
Codon Change From TCC to TGC
Phenotype DSS
htz/hmz htz
Family History -

Hayasaka et al., 1993
References

Genomic cDNA Protein
Observed c.188C>G
Deduced c.188C>G S63C
Region EX2 CDS EC
Date Added: 01-May-99 ID: 46

Name c.188C>T
Alias Ser63Phe
Description Point mutation in coding region causing an amino acid substitution
Codon Change From TCC to TTC
Phenotype CMT1
htz/hmz htz
Family History -

Blanquet-Grossard et al., 1995
Mostacciuolo et al., 2001
Lee et al., 2004
References

Genomic cDNA Protein
Observed c.188C>T
Deduced c.188C>T S63F
Region EX2 CDS EC
Date Added: 01-May-99 ID: 47

Name c.188_190delCCT
Alias Ser63del
Description Deletion in coding region causing an amino acid deletion
Codon Change From - to -
Phenotype CMT1
htz/hmz htz
Family History -

Kulkens et al., 1993
Numakura et al., 2002
References

Genomic cDNA Protein
Observed c.188_190delCTT
Deduced c.188_190delCTT c.188_190delCTT S63del
Region EX2 CDS EC
Date Added: 01-May-99 ID: 48

Name c.190_192delTTC
Alias Phe64del
Description Deletion in coding region causing an amino acid deletion
Codon Change From - to -
Phenotype CMT1 (htz) / DSS (hmz)
htz/hmz htz or hmz
Family History -

Ikegami et al., 1998
References

Genomic cDNA Protein
Observed c.190_192delTTC
Deduced c.190_192delTTC F64del
Region EX2 CDS EC
Date Added: 01-May-99 ID: 49

Name c.193A>G
Alias Thr65Ala
Description Point mutation in coding region causing an amino acid substitution
Codon Change From ACC to GCC
Phenotype CMT1with focally folded myelin
htz/hmz htz
Family History isolated

Kochanski et al., 2004
References

Genomic cDNA Protein
Observed c.193A>G
Deduced c.193A>G T65A
Region EX2 CDS EC
Date Added: 13-May-04 ID: 411

Name c.194C>A
Alias Thr65Asn
Description Point mutation in coding region causing an amino acid substitution
Codon Change From ACC to AAC
Phenotype CMT1
htz/hmz htz
Family History de novo

Seeman et al., 2003
References

Genomic cDNA Protein
Observed c.194C>A
Deduced c.194C>A T65N
Region EX2 CDS EC
Date Added: 16-Jul-04 ID: 683

Name c.194C>T
Alias Thr65Ile
Description Point mutation in coding region causing an amino acid substitution
Codon Change From ACC to ATC
Phenotype CMT1
htz/hmz htz
Family History unknown

Numakura et al., 2002
Lee et al., 2004
References

Genomic cDNA Protein
Observed c.194C>T
Deduced c.194C>T T65I
Region EX2 CDS EC
Date Added: 04-Feb-03 ID: 626

Name c.200G>C
Alias Arg67Pro
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CGC to CCC
Phenotype CMT1
htz/hmz htz
Family History familial

Hisama et al., 2005
References

Genomic cDNA Protein
Observed c.200G>C
Deduced c.200G>C R67P
Region EX2 CDS EC
Date Added: 09-Sep-05 ID: 777

Name c.203A>G
Alias Tyr68Cys
Description Point mutation in coding region causing an amino acid substitution
Codon Change From TAC to TGC
Phenotype CMT1-severe
htz/hmz htz
Family History -

Sorour et al., 1998
Yoshihara et al., 2000
Numakura et al., 2002
References

Genomic cDNA Protein
Observed c.203A>G
Deduced c.203A>G Y68C
Region EX2 CDS EC
Date Added: 01-May-99 ID: 50

Name c.208C>T
Alias Pro70Ser
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CCC to TCC
Phenotype CMT2
htz/hmz htz
Family History -

Laurà et al., 2007
References

Genomic cDNA Protein
Observed c.208C>T
Deduced c.208C>T P70S
Region EX2 CDS EC
Date Added: 27-Nov-07 ID: 912

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

Haites et al., 1998
References

Genomic cDNA Protein
Observed c.223delG
Deduced c.223delG D75fsX102
Region EX2 CDS EC
Date Added: 01-May-99 ID: 51

Name c.224A>T
Alias Asp75Val
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GAT to GTT
Phenotype CMT2
htz/hmz htz
Family History D

Misu et al., 2000
Numakura et al., 2002
References

Genomic cDNA Protein
Observed c.224A>T
Deduced c.224A>T D75V
Region EX2 CDS EC
Date Added: 15-Nov-00 ID: 470

Name c.227C>T
Alias Ala76Val
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GCC to GTC
Phenotype CMT2 / polymorphism
htz/hmz htz
Family History -

Lee et al., 1999
Gokhale, 2001
References

Genomic cDNA Protein
Observed c.227C>T
Deduced c.227C>T A76V
Region EX2 CDS EC
Date Added: 06-Jul-99 ID: 333

Name c.233C>G
Alias Ser78Trp
Description Point mutation in coding region causing an amino acid substitution
Codon Change From TCG to TGG
Phenotype CMT1
htz/hmz htz
Family History -

Kakar et al., 2003
References

Genomic cDNA Protein
Observed c.233C>G
Deduced c.233C>G S78W
Region EX2 CDS EC
Date Added: 08-Dec-03 ID: 370

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

Nelis et al., 1994
Latour et al., 1995
Bort et al., 1997
Haites et al., 1998
Silander et al., 1998
Fabrizi et al., 2000
Young et al., 2001
Boerkoel et al., 2002
Huehne et al., 2003
References

Genomic cDNA Protein
Observed c.233C>T
Deduced c.233C>T S78L
Region EX2 CDS EC
Date Added: 01-May-99 ID: 52

Name c.211G>T
Alias Glu71X
Description Point mutation in coding region causing a stop mutation
Codon Change From GAA to TAA
Phenotype CMT1
htz/hmz htz
Family History D

Lagueny et al., 2001
References

Genomic cDNA Protein
Observed c.211G>T
Deduced c.211G>T E71X
Region EX3 CDS EC
Date Added: 28-Jun-01 ID: 505

Name c.[241C>T;337G>T]
Alias [His81Tyr;Val113Phe]
Description Double point mutation in coding region causing a double amino acid substitution
Codon Change From [CAC; GTC] to [TAC; TTC]
Phenotype CMT1
htz/hmz htz
Family History -

Bienfait et al., 2002
References

Genomic cDNA Protein
Observed c.[241C>T; 337G>T]
Deduced c.[241C>T; 337G>T] [H81Y; V113F]
Region EX3 CDS EC
Date Added: 07-Jul-99 ID: 338

Name c.242A>G
Alias His81Arg
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CAC to CGC
Phenotype CMT1-severe (+ trigeminal nerve thickening)
htz/hmz htz
Family History -

Sorour et al., 1997
Shizuka et al., 1999
References

Genomic cDNA Protein
Observed c.242A>G
Deduced c.242A>G H81R
Region EX3 CDS EC
Date Added: 01-May-99 ID: 53

Name c.244T>C
Alias Tyr82His
Description Point mutation in coding region causing an amino acid substitution
Codon Change From TAT to CAT
Phenotype CMT2
htz/hmz htz
Family History D

Bienfait et al., 2006
References

Genomic cDNA Protein
Observed c.244T>C
Deduced c.244T>C Y82H
Region EX3 CDS EC
Date Added: 09-Mar-07 ID: 850

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

Himoro et al., 1993
Mitsui et al., 1994
Haites et al., 1998
Silander et al., 1998
Boerkoel et al., 2002
Numakura et al., 2002
References

Genomic cDNA Protein
Observed c.245A>G
Deduced c.245A>G Y82C
Region EX3 CDS EC
Date Added: 01-May-99 ID: 54

Name c.258_265delACCCTACAinsCCTCT
Alias Gln86_Ile89delinsHisLeuPhe
Description Deletion and insertion in coding region causing deletion of 4 amino acids and insertion of 2 amino acids
Codon Change From - to -
Phenotype DSS
htz/hmz htz
Family History -

Silander et al., 1996
References

Genomic cDNA Protein
Observed c.258_265delACCCTACAinsCCTCT
Deduced c.258_265delACCCTACAinsCCTCT Q86_I89delinsHLF
Region EX3 CDS EC
Date Added: 01-May-99 ID: 55

Name c.266T>A+274G>A+486C>G
Alias Ile89Asn+Val92Met+Ile162Met
Description Triple point mutation in coding region causing a triple amino acid substitution
Codon Change From ATT+GTG+ATC to AAT+ATG+ATG
Phenotype CMT2
htz/hmz htz
Family History AD

Boerkoel et al., 2002
References

Genomic cDNA Protein
Observed c.266T>A+274G>A+486C>G
Deduced c.266T>A+274G>A+486C>G I89N+V92M+I162M
Region EX3 CDS EC
Date Added: 09-Dec-03 ID: 371

Name c.270C>A
Alias Asp90Glu
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GAC to GAA
Phenotype CMT1
htz/hmz htz
Family History -

Hayasaka et al., 1993
References

Genomic cDNA Protein
Observed c.270C>A
Deduced c.270C>A D90E
Region EX3 CDS EC
Date Added: 01-May-99 ID: 56

Name c.276G>A
Alias Val92Val
Description Point mutation in coding region causing a silent mutation
Codon Change From GTG to GTA
Phenotype - (polymorphism)
htz/hmz htz
Family History -

Nelis et al., 1994
References

Genomic cDNA Protein
Observed c.276G>A
Deduced c.276G>A V92V
Region EX3 CDS EC
Date Added: 01-May-99 ID: 97

Name c.278G>A
Alias Gly93Glu
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GGG to GAG
Phenotype CMT1
htz/hmz htz
Family History -

Ikegami et al., 1998
References

Genomic cDNA Protein
Observed c.278G>A
Deduced c.278G>A G93E
Region EX3 CDS EC
Date Added: 01-May-99 ID: 57

Name c.286A>G
Alias Lys96Glu
Description Point mutation in coding region causing an amino acid substitution
Codon Change From AAA to GAA
Phenotype CMT1
htz/hmz htz
Family History -

Hayasaka et al., 1993
References

Genomic cDNA Protein
Observed c.286A>G
Deduced c.286A>G K96E
Region EX3 CDS EC
Date Added: 01-May-99 ID: 58

Name c.290A>T
Alias Glu97Val
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GAG to GTG
Phenotype CMT2 and deafness and pupillary abnormalities
htz/hmz htz
Family History D

Seeman et al., 2004
References

Genomic cDNA Protein
Observed c.290A>T
Deduced c.290A>T E97V
Region EX3 CDS EC
Date Added: 27-Sep-01 ID: 542

Name c.292C>A
Alias Arg98Ser
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CGC to AGC
Phenotype CMT1
htz/hmz htz
Family History -

Warner et al., 1996
References

Genomic cDNA Protein
Observed c.292C>A
Deduced c.292C>A R98S
Region EX3 CDS EC
Date Added: 01-May-99 ID: 61

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

Gabreëls-Festen et al., 1996
Rouger et al., 1996
Warner et al., 1996
Bort et al., 1997
Komiyama et al., 1997
Haites et al., 1998
Lee et al., 2004
Seeman, 2004
References

Genomic cDNA Protein
Observed c.292C>T
Deduced c.292C>T R98C
Region EX3 CDS EC
Date Added: 01-May-99 ID: 59

Name c.293G>A
Alias Arg98His
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CGC to CAC
Phenotype CMT1
htz/hmz htz
Family History -

Hayasaka et al., 1993
Gabreëls-Festen et al., 1996
Rouger et al., 1996
Lagueny et al., 1999
Mersiyanova et al., 2000
Young et al., 2001
Watanabe et al., 2002
Shy et al., 2004
Lee et al., 2005
References

Genomic cDNA Protein
Observed c.293G>A
Deduced c.293G>A R98H
Region EX3 CDS EC
Date Added: 01-May-99 ID: 60

Name c.293G>C
Alias Arg98Pro
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CGC to CCC
Phenotype CMT1
htz/hmz htz
Family History -

Rouger et al., 1996
References

Genomic cDNA Protein
Observed c.293G>C
Deduced c.293G>C R98P
Region EX3 CDS EC
Date Added: 01-May-99 ID: 62

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

Haites et al., 1998
Donaghy et al., 2000
References

Genomic cDNA Protein
Observed c.296T>C
Deduced c.296T>C I99T
Region EX3 CDS EC
Date Added: 01-May-99 ID: 63

Name c.303G>C
Alias Trp101Cys
Description Point mutation in coding region causing an amino acid substitution
Codon Change From TGG to TGC
Phenotype CMT1
htz/hmz htz
Family History -

Latour et al., 1995
References

Genomic cDNA Protein
Observed c.303G>C
Deduced c.303G>C W101C
Region EX3 CDS EC
Date Added: 01-May-99 ID: 64

Name c.306delA
Alias Val102fs
Description Deletion in coding region causing a frameshift and a stop at codon 117
Codon Change From - to -
Phenotype CMT1 (htz) / DSS (hmz)
htz/hmz htz or hmz
Family History -

Taroni et al. (same family), 1996
Warner et al., 1996
De Angelis et al., 2004
References

Genomic cDNA Protein
Observed c.306delA
Deduced c.306delA V102fsX117
Region EX3 CDS EC
Date Added: 01-May-99 ID: 65

Name c.308G>A
Alias Gly103Glu
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GGG to GAG
Phenotype CMT1
htz/hmz htz
Family History somatic and germline mosaicism

Fabrizi et al., 2001
References

Genomic cDNA Protein
Observed c.308G>A
Deduced c.308G>A G103E
Region EX3 CDS EC
Date Added: 04-Feb-03 ID: 578

Name c.313C>A
Alias Pro105Thr
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CCT to ACT
Phenotype CMT2 + hearing impairment
htz/hmz htz
Family History D

Kabzinska et al., 2007
References

Genomic cDNA Protein
Observed c.313C>A
Deduced c.313C>A P105T
Region EX3 CDS EC
Date Added: 27-Nov-07 ID: 901

Name c.325G>A
Alias Asp109Asn
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GAT to AAT
Phenotype CMT1
htz/hmz htz
Family History -

Lagueny et al., 1999
References

Genomic cDNA Protein
Observed c.325G>A
Deduced c.325G>A D109N
Region EX3 CDS EC
Date Added: 12-Nov-99 ID: 421

Name c.327T>A
Alias Asp109Glu
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GAT to GAA
Phenotype CMT2
htz/hmz htz
Family History familial

Santoro et al., 2004
References

Genomic cDNA Protein
Observed c.327T>A
Deduced c.327T>A D109E
Region EX3 CDS EC
Date Added: 13-May-04 ID: 414

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

Ekici et al., 2000
Huehne et al., 2003
References

Genomic cDNA Protein
Observed c.329G>A
Deduced c.329G>A G110D
Region EX3 CDS EC
Date Added: 20-Mar-02 ID: 560

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

Haites et al., 1998
Sorour et al., 1998
References

Genomic cDNA Protein
Observed c.335T>C
Deduced c.335T>C I112T
Region EX3 CDS EC
Date Added: 01-May-99 ID: 66

Name c.337G>A
Alias Val113Ile
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GTC to ATC
Phenotype - (polymorphism)
htz/hmz -
Family History -

Numakura et al., 2002
References

Genomic cDNA Protein
Observed c.337G>A
Deduced c.337G>A V113I
Region EX3 CDS EC
Date Added: 04-Feb-03 ID: 627

Name c.[341T>C;346A>C;382G>A]
Alias [Ile114Thr;Asn116His;Asp128Asn]
Description Triple point mutation in coding region causing a triple amino acid substitution
Codon Change From [ATA; AAC; GAC] to [ACA; CAC; AAC]
Phenotype DSS
htz/hmz htz
Family History -

Warner et al., 1997
References

Genomic cDNA Protein
Observed c.[341T>C; 346A>C; 382G>A]
Deduced c.[341T>C; 346A>C; 382G>A] [114T; N116H; D128N]
Region EX3 CDS EC
Date Added: 01-May-99 ID: 67

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

Choi et al., 2004
References

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

Name c.355_356insTCTACT
Alias Asp118_Tyr119insPheTyr
Description Insertion in coding region causing two amino acids insertion
Codon Change From - to -
Phenotype DSS
htz/hmz htz
Family History -

Ikegami et al., 1997
References

Genomic cDNA Protein
Observed c.355_356insTCTACT
Deduced c.355_356insTCTACT D118_Y119insFY
Region EX3 CDS EC
Date Added: 01-May-99 ID: 68

Name c.356A>G
Alias Tyr119Cys
Description Point mutation in coding region causing an amino acid substitution
Codon Change From TAC to TGC
Phenotype CMT2
htz/hmz htz
Family History -

Senderek et al., 2000
References

Genomic cDNA Protein
Observed c.356A>G
Deduced c.356A>G Y119C
Region EX3 CDS EC
Date Added: 06-Jul-99 ID: 331

Name c.365A>G
Alias Asn122Ser
Description Point mutation in coding region causing an amino acid substitution
Codon Change From AAT to AGT
Phenotype CMT1
htz/hmz htz
Family History -

Blanquet-Grossard et al., 1996
References

Genomic cDNA Protein
Observed c.365A>G
Deduced c.365A>G N122S
Region EX3 CDS EC
Date Added: 01-May-99 ID: 69

Name c.367G>T
Alias Gly123Cys
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GGC to TGC
Phenotype DSS
htz/hmz htz
Family History isolated

Boerkoel et al., 2002
References

Genomic cDNA Protein
Observed c.367G>T
Deduced c.367G>T G123C
Region EX3 CDS EC
Date Added: 11-Dec-03 ID: 372

Name c.367G>A
Alias Gly123Ser
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GGC to AGC
Phenotype CMT1
htz/hmz htz
Family History AD

Lee, 2005
References

Genomic cDNA Protein
Observed c.367G>A
Deduced c.367G>A G123S
Region EX3 CDS EC
Date Added: 01-Jul-05 ID: 776

Name c.371C>A
Alias Thr124Lys
Description Point mutation in coding region causing an amino acid substitution
Codon Change From ACG to AAG
Phenotype CH
htz/hmz htz
Family History de novo

Kochanski et al., 2004
References

Genomic cDNA Protein
Observed c.371C>A
Deduced c.371C>A T124K
Region EX3 CDS EC
Date Added: 13-May-04 ID: 413

Name c.371C>T
Alias Thr124Met
Description Point mutation in coding region causing an amino acid substitution
Codon Change From ACG to ATG
Phenotype CMT1/2 (+ pupillary abnormalities + deafness + chronic cough)
htz/hmz htz
Family History AD

Schiavon et al., 1998
Chapon et al., 1999
De Jonghe et al., 1999
Misu et al., 2000
Senderek et al., 2000
Hanemann et al., 2001
Kurihara et al., 2002
Numakura et al., 2002
Kurihara et al., 2003
Baloh et al., 2004
Kurihara et al., 2004
Seeman, 2004
References

Genomic cDNA Protein
Observed c.371C>T
Deduced c.371C>T T124M
Region EX3 CDS EC
Date Added: 01-May-99 ID: 70

Name c.372_377delGTTCAC
Alias Phe125_Thr126del
Description Deletion in coding region causing two amino acids deletion
Codon Change From - to -
Phenotype DSS
htz/hmz htz
Family History -

Schiavon et al., 1998
References

Genomic cDNA Protein
Observed c.372_377delGTTCAC
Deduced c.372_377delGTTCAC F125_T126del
Region EX3 CDS EC
Date Added: 01-May-99 ID: 71

Name c.380G>A
Alias Cys127Tyr
Description Point mutation in coding region causing an amino acid substitution
Codon Change From TGT to TAT
Phenotype DSS
htz/hmz htz
Family History -

Fabrizi et al., 1999
References

Genomic cDNA Protein
Observed c.380G>A
Deduced c.380G>A C127Y
Region EX3 CDS EC
Date Added: 01-May-99 ID: 72

Name c.382G>A
Alias Asp128Asn
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GAC to AAC
Phenotype CMT1
htz/hmz htz
Family History -

Marques Jr et al., 1999
References

Genomic cDNA Protein
Observed c.382G>A
Deduced c.382G>A D128N
Region EX3 CDS EC
Date Added: 16-Aug-99 ID: 418

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

Haites et al., 1998
References

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

Name c.389A>G
Alias Lys130Arg
Description Point mutation in coding region causing an amino acid substitution
Codon Change From AAA to AGA
Phenotype CMT1 / DSS
htz/hmz htz
Family History -

Gabreëls-Festen et al., 1996
Tachi et al., 1996
Yoshihara et al., 2000
Shy et al., 2004
References

Genomic cDNA Protein
Observed c.389A>G
Deduced c.389A>G K130R
Region EX3 CDS EC
Date Added: 01-May-99 ID: 74

Name c.393C>A
Alias Asn131Lys
Description Point mutation in coding region causing an amino acid substitution
Codon Change From AAC to AAA
Phenotype CMT1 (Roussy-Lévy syndrome) (+ focally folded myelin sheaths)
htz/hmz htz
Family History AD

Planté-Bordeneuve et al., 1999
Kochanski et al., 2003
References

Genomic cDNA Protein
Observed c.393C>A
Deduced c.393C>A N131K
Region EX3 CDS EC
Date Added: 20-Dec-99 ID: 424

Name c.395C>T
Alias Pro132Leu
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CCT to CTT
Phenotype CMT1
htz/hmz htz
Family History -

Sorour et al., 1998
References

Genomic cDNA Protein
Observed c.395C>T
Deduced c.395C>T P132L
Region EX3 CDS EC
Date Added: 01-May-99 ID: 75

Name c.400G>A
Alias Asp134Asn
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GAC to AAC
Phenotype CMT1
htz/hmz htz
Family History D

Nelis et al., 1994
References

Genomic cDNA Protein
Observed c.400G>A
Deduced c.400G>A D134N
Region EX3 CDS EC
Date Added: 01-May-99 ID: 77

Name c.401A>G
Alias Asp134Gly
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GAC to GGC
Phenotype CMT1
htz/hmz htz
Family History -

Mersiyanova et al., 2000
References

Genomic cDNA Protein
Observed c.401A>G
Deduced c.401A>G D134G
Region EX3 CDS EC
Date Added: 08-Jul-99 ID: 341

Name c.402C>A
Alias Asp134Glu
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GAC to GAA
Phenotype CMT1
htz/hmz htz
Family History AD

Nelis et al., 1994
Mersiyanova et al., 2000
References

Genomic cDNA Protein
Observed c.402C>A
Deduced c.402C>A D134E
Region EX3 CDS EC
Date Added: 01-May-99 ID: 76

Name c.403A>C
Alias Ile135Leu
Description Point mutation in coding region causing an amino acid substitution
Codon Change From ATA to CTA
Phenotype CMT1
htz/hmz htz
Family History -

Gabreëls-Festen et al., 1996
References

Genomic cDNA Protein
Observed c.403A>C
Deduced c.403A>C I135L
Region EX3 CDS EC
Date Added: 01-May-99 ID: 78

Name c.404T>C
Alias Ile135Thr
Description Point mutation in coding region causing an amino acid substitution
Codon Change From ATA to ACA
Phenotype CMT1 / DSS
htz/hmz htz
Family History -

Roa et al., 1996
Tyson et al., 1997
Mersiyanova et al., 2000
References

Genomic cDNA Protein
Observed c.404T>C
Deduced c.404T>C I135T
Region EX3 CDS EC
Date Added: 01-May-99 ID: 79

Name c.407T>A
Alias Val136Glu
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GTG to GAG
Phenotype DSS
htz/hmz htz
Family History AD

Boerkoel et al., 2002
References

Genomic cDNA Protein
Observed c.407T>A
Deduced c.407T>A V136E
Region EX3 CDS EC
Date Added: 11-Dec-03 ID: 373

Name c.409G>A
Alias Gly137Ser
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GGC to AGC
Phenotype CMT1
htz/hmz htz
Family History -

Roa et al., 1996
References

Genomic cDNA Protein
Observed c.409G>A
Deduced c.409G>A G137S
Region EX3 CDS EC
Date Added: 01-May-99 ID: 80

Name c.414G>C
Alias Lys138Asn
Description Point mutation in coding region causing an amino acid substitution
Codon Change From AAG to AAC
Phenotype CMT1
htz/hmz htz
Family History -

Mersiyanova et al., 2000
References

Genomic cDNA Protein
Observed c.414G>C
Deduced c.414G>C K138N
Region EX3 CDS EC
Date Added: 08-Jul-99 ID: 342

Name c.416C>A
Alias Thr139Asn
Description Point mutation in coding region causing an amino acid substitution
Codon Change From ACC to AAC
Phenotype CMT1
htz/hmz htz
Family History -

Mersiyanova et al., 2000
References

Genomic cDNA Protein
Observed c.416C>A
Deduced c.416C>A T139N
Region EX3 CDS EC
Date Added: 08-Jul-99 ID: 343

Name c.418T>A
Alias Ser140Thr
Description Point mutation in coding region causing an amino acid substitution
Codon Change From TCT to ACT
Phenotype CMT1
htz/hmz htz
Family History AD

Street et al., 2002
Shy et al., 2004
References

Genomic cDNA Protein
Observed c.418T>A
Deduced c.418T>A S140T
Region EX3 CDS EC
Date Added: 25-Nov-02 ID: 575

Name c.421C>T
Alias Gln141X
Description Point mutation in coding region causing a stop mutation
Codon Change From CAG to TAG
Phenotype CMT2
htz/hmz htz
Family History AD

Young et al., 2001
References

Genomic cDNA Protein
Observed c.421C>T
Deduced c.421C>T Q141X
Region EX3 CDS EC
Date Added: 28-Jun-01 ID: 490

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

Haites et al., 1998
References

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

Name c.434A>C
Alias Tyr145Ser
Description Point mutation in coding region causing an amino acid substitution
Codon Change From TAT to TCT
Phenotype CMT1/2 (+ deafness) (+pupillary abnormalities in hmz)
htz/hmz htz or hmz
Family History AR

Leal et al., 2003
Starr et al., 2003
References

Genomic cDNA Protein
Observed c.434A>C
Deduced c.434A>C Y145S
Region EX3 CDS
Date Added: 18-Nov-03 ID: 362

Name c.436G>T
Alias Val146Phe
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GTC to TTC
Phenotype CMT1
htz/hmz htz
Family History -

Ohnishi et al., 2000
References

Genomic cDNA Protein
Observed c.436G>T
Deduced c.436G>T V146F
Region EX3 CDS EC
Date Added: 17-Jul-00 ID: 439

Name c.449-1G>C
Alias 3'-splice site
Description Splice site mutation
Codon Change From - to -
Phenotype CMT1
htz/hmz htz
Family History -

Bort et al., 1997
References

Genomic cDNA Protein
Observed c.449-1G>C
Deduced
Region IN3 EC
Date Added: 01-May-99 ID: 82

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

Choi et al., 2004
Song et al., 2006
References

Genomic cDNA Protein
Observed c.449-1G>T
Deduced
Region IN3
Date Added: 24-Mar-05 ID: 723

Name c.462C>A
Alias Tyr154X
Description Point mutation in coding region causing a stop mutation
Codon Change From TAC to TAA
Phenotype CMT1
htz/hmz htz
Family History -

Nelis et al., 1994
References

Genomic cDNA Protein
Observed c.462C>A
Deduced c.462C>A Y154X
Region EX4 CDS TM
Date Added: 01-May-99 ID: 83

Name c.487G>A
Alias Gly163Arg
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GGG to AGG
Phenotype CMT1
htz/hmz htz
Family History AD

Nelis et al., 1996
Numakura et al., 2002
Street et al., 2002
Eggers et al., 2004
References

Genomic cDNA Protein
Observed c.487G>A
Deduced c.487G>A G163R
Region EX4 CDS TM
Date Added: 01-May-99 ID: 84

Name c.[496delC;499G>C]
Alias Leu166fs
Description Deletion and point mutation in coding region causing a frameshift and a stop at codon 251
Codon Change From - to -
Phenotype DSS
htz/hmz htz
Family History isolated

Tyson et al., 1997
References

Genomic cDNA Protein
Observed c.[496delC;499G>C]
Deduced c.[496delC;499G>C] L166fsX251
Region EX4 CDS TM
Date Added: 01-May-99 ID: 86

Name c.499G>A
Alias Gly167Arg
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GGG to AGG
Phenotype CMT1 / DSS / CH
htz/hmz htz
Family History -

Hayasaka et al., 1993
Nelis et al., 1996
Sorour et al., 1998
Takashima et al., 1999
Simonati et al., 2002
References

Genomic cDNA Protein
Observed c.499G>A
Deduced c.499G>A G167R
Region EX4 CDS TM
Date Added: 01-May-99 ID: 85

Name c.506delT
Alias Val169fs
Description Deletion in coding region causing a frameshift and a stop at codon 251
Codon Change From - to -
Phenotype DSS
htz/hmz htz
Family History -

Taroni et al., 1997
References

Genomic cDNA Protein
Observed c.506delT
Deduced c.506delT V169fsX251
Region EX4 CDS TM
Date Added: 10-Jan-00 ID: 426

Name c.522_525delGCTT
Alias Leu174fs
Description Deletion in coding region causing a frameshift and a stop at codon 250
Codon Change From - to -
Phenotype DSS
htz/hmz htz
Family History -

Warner et al., 1996
References

Genomic cDNA Protein
Observed c.522_525delGCTT
Deduced c.522_525delGCTT L174fsX250
Region EX4 CDS TM
Date Added: 01-May-99 ID: 88

Name c.543C>G
Alias Tyr181X
Description Point mutation in coding region causing a stop mutation
Codon Change From TAC to TAG
Phenotype CMT1
htz/hmz htz
Family History D

Nelis et al., 1994
References

Genomic cDNA Protein
Observed c.543C>G
Deduced c.543C>G Y181X
Region EX4 CDS IC
Date Added: 01-May-99 ID: 89

Name c.549_550insG
Alias Leu184fs
Description Insertion in coding region causing a frameshift and a stop at codon 234
Codon Change From - to -
Phenotype CH
htz/hmz htz
Family History D

Smit et al., 2007
References

Genomic cDNA Protein
Observed c.549_550insG
Deduced c.549_550insG L184fsX234
Region EX4 CDS TM
Date Added: 29-Nov-07 ID: 922

Name c.550_552delCTAinsG
Alias Leu184fs
Description Deletion and insertion in coding region causing a frameshift mutation and a stop at codon 233
Codon Change From - to -
Phenotype CH + cranial nerve dysfunction + respiratory failure + hypertrophic cardiomyopathy
htz/hmz htz
Family History de novo

Szigeti et al., 2003
References

Genomic cDNA Protein
Observed c.550_552delCTAinsG
Deduced c.550_552delCTAinsG L184fsX233
Region EX4 CDS TM
Date Added: 09-Dec-03 ID: 369

Name c.554delG
Alias Arg185fs
Description Deletion in coding region causing a frameshift and a stop at codon 251
Codon Change From - to -
Phenotype CMT1
htz/hmz htz
Family History -

Bort et al., 1997
References

Genomic cDNA Protein
Observed c.554delG
Deduced c.554delG R185fsX251
Region EX4 CDS IC
Date Added: 01-May-99 ID: 90

Name c.563_564insAGGC
Alias Ala188fs
Description Insertion in coding region causing a frameshift and a stop at codon 235
Codon Change From - to -
Phenotype DSS
htz/hmz htz
Family History de novo

Tachi et al., 1998
References

Genomic cDNA Protein
Observed c.563_564insAGGC
Deduced c.563_564insAGGC A188fsX235
Region EX4 CDS IC
Date Added: 01-May-99 ID: 87

Name c.570delG
Alias Leu190fs
Description Deletion in coding region causing a frameshift and a stop at codon 251
Codon Change From - to -
Phenotype CMT1
htz/hmz htz
Family History isolated

Kochanski et al., 2004
References

Genomic cDNA Protein
Observed c.570delG
Deduced c.570delG L190fsX251
Region EX4 CDS IC
Date Added: 23-Aug-04 ID: 699

Name c.584+2T>G
Alias 5'-splice site
Description splice site mutation causing skipping of exon 4 and a frameshift
Codon Change From - to -
Phenotype CMT1
htz/hmz htz
Family History D

Sabet et al., 2006
References

Genomic cDNA Protein
Observed c.584+2T>G
Deduced c.448_585del V150fs
Region IN4
Date Added: 09-Mar-07 ID: 848

Name c.600G>A
Alias Gly200Gly
Description Point mutation in coding region causing a silent mutation
Codon Change From GGG to GGA
Phenotype - (polymorphism)
htz/hmz htz
Family History -

Roa et al., 1996
Bort et al., 1997
References

Genomic cDNA Protein
Observed c.600G>A
Deduced c.600G>A G200G
Region EX5 CDS IC
Date Added: 01-May-99 ID: 98

Name c.614_615insGGGAAATTGCACAAGCC
Alias Pro205fs
Description Insertion in coding region causing a frameshift and a stop at codon 257
Codon Change From - to -
Phenotype CMT1
htz/hmz htz
Family History -

Bort et al., 1997
References

Genomic cDNA Protein
Observed c.614_615insGGGAAATTGCACAAGCC
Deduced c.614_615insGGGAAATTGCACAAGCC P205fsX257
Region EX5 CDS IC
Date Added: 01-May-99 ID: 91

Name c.616G>T
Alias Gly206X
Description Point mutation in coding region causing a stop mutation
Codon Change From GGA to TGA
Phenotype CMT1
htz/hmz htz
Family History AD

Senderek et al., 2001
References

Genomic cDNA Protein
Observed c.616G>T
Deduced c.616G>T G206X
Region EX5 CDS IC
Date Added: 10-May-00 ID: 430

Name c.637G>C
Alias Gly213Arg
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GGG to CGG
Phenotype -(polymorphism
htz/hmz htz
Family History -

Seeman, 2004
References

Genomic cDNA Protein
Observed c.637G>C
Deduced c.637G>C G213R
Region EX5 CDS IC
Date Added: 20-Mar-02 ID: 557

Name c.643C>T
Alias Gln215X
Description Point mutation in coding region causing a stop mutation
Codon Change From CAG to TAG
Phenotype CH
htz/hmz htz
Family History -

Warner et al., 1996
Mandich et al., 1999
References

Genomic cDNA Protein
Observed c.643C>T
Deduced c.643C>T Q215X
Region EX5 CDS IC
Date Added: 01-May-99 ID: 92

Name c.645+1G>T
Alias 5'-splice site
Description splice site mutation
Codon Change From - to -
Phenotype CMT1
htz/hmz hmz
Family History de novo

Seeman et al., 2003
References

Genomic cDNA Protein
Observed c.645+1G>T
Deduced
Region IN5
Date Added: 16-Jul-04 ID: 684

Name c.662_663insGC
Alias Ala221fs
Description Insertion in coding region causing a frameshift and a stop at codon 252
Codon Change From - to -
Phenotype DSS
htz/hmz htz
Family History -

Rautenstrauss et al., 1994
References

Genomic cDNA Protein
Observed c.662_663insGC
Deduced c.662_663insGC A221fsX252
Region EX6 CDS IC
Date Added: 01-May-99 ID: 93

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

Haites et al., 1998
References

Genomic cDNA Protein
Observed c.676_677insCA
Deduced c.676_677insCA S226fsX252
Region EX6 CDS IC
Date Added: 01-May-99 ID: 94

Name c.681A>?
Alias Arg227Ser
Description Point mutation in coding region causing an amino acid substitution
Codon Change From AGA to AG?
Phenotype CMT1
htz/hmz htz
Family History -

Xu et al., 2001
References

Genomic cDNA Protein
Observed c.681A>?
Deduced c.681A>? R227S
Region EX6 CDS IC
Date Added: 20-Mar-02 ID: 559

Name c.684C>T
Alias Ser228Ser
Description Point mutation in coding region causing a silent mutation
Codon Change From AGC to AGT
Phenotype - (polymorphism)
htz/hmz htz
Family History -

Nelis et al., 1994
Roa et al., 1996
Bort et al., 1997
Mersiyanova et al., 2000
References

Genomic cDNA Protein
Observed c.684C>T
Deduced c.684C>T S228S
Region EX6 CDS IC
Date Added: 01-May-99 ID: 99

Name c.699_702delTGAG
Alias Ser233fs
Description Deletion in coding region causing a frameshift and a stop at codon 250
Codon Change From - to -
Phenotype CMT1-severe
htz/hmz htz
Family History -

Bellone et al., 1996
Lee et al., 2004
References

Genomic cDNA Protein
Observed c.699_702delTGAG
Deduced c.699_702delTGAG S233fsX250
Region EX6 CDS IC
Date Added: 01-May-99 ID: 95

Name c.706_708delAAG
Alias Lys236del
Description Deletion in coding region causing an amino acid deletion
Codon Change From - to -
Phenotype CMT1/CMT2
htz/hmz htz
Family History AD

Street et al., 2002
Sowden et al., 2005
References

Genomic cDNA Protein
Observed c.706_708delAAG
Deduced c.706_708delAAG K236del
Region EX6 CDS IC
Date Added: 25-Nov-02 ID: 576

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

Choi et al., 2004
References

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

Name c.731G>T
Alias Arg244Leu
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CGC to CTC
Phenotype - (polymorphism)
htz/hmz htz
Family History -

Bort et al., 1997
References

Genomic cDNA Protein
Observed c.731G>T
Deduced c.731G>T R244L
Region EX6 CDS IC
Date Added: 01-May-99 ID: 100



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