Inherited Peripheral Neuropathies

IPN Mutations

Lookup Mutations

By Gene By Mutation Type By Phenotype By Publication

Newest Entries Submit Mutation Table Legend

last updated 17-Feb-11

Mutations in 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

Inherited Peripheral Neuropathies Mutation Database

IPN Mutations

Mutations in MPZ (P0)