Inherited Peripheral Neuropathies

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IPN Mutations

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last updated 17-Feb-11

Mutations in MTMR2

Name	c.8C>A
Alias	Thr3Lys
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From ACG to AAG
Phenotype	- (polymorphism)
htz/hmz	htz or hmz
Family History	-

Bolino et al., 2001 Houlden et al., 2001 References		Genomic	cDNA	Protein
	Observed	c.8C>A
	Deduced		c.8C>A	T3K
	Region	EX1	CDS
	Date Added: 28-Jun-01		ID: 493

Name	c.[298G>A]+[?]
Alias	[Ala100Thr]+[?]
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GCT to ACT
Phenotype	Unknown
htz/hmz	compound htz
Family History	-

Bolino et al., 2001 References		Genomic	cDNA	Protein
	Observed	c.[298G>A] + [?]
	Deduced		c.[298G>A] + [?]	[A100T] + [?]
	Region	EX4	CDS
	Date Added: 28-Jun-01		ID: 498

Name	c.[308G>A]+[308G>A]
Alias	[Gly103Glu]+[Gly103Glu]
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GGA to GAA
Phenotype	CMT4B
htz/hmz	hmz
Family History	AR

Houlden et al., 2001 References		Genomic	cDNA	Protein
	Observed	c.[308G>A] + [308G>A]
	Deduced		c.[308G>A] + [308G>A]	G103E
	Region	EX4	CDS
	Date Added: 28-Jun-01		ID: 502

Name	c.[324delG]+[324delG]
Alias	[Thr108fs]+[Thr108fs]
Description	Deletion in coding region causing a frameshift and a stop at codon
Codon Change	From - to -
Phenotype	CMT4B
htz/hmz	hmz
Family History	AR

Houlden et al., 2001 References		Genomic	cDNA	Protein
	Observed	c.[324delG] + [324delG]
	Deduced		c.[324delG] + [324delG]	T108fsX
	Region	EX4	CDS
	Date Added: 28-Jun-01		ID: 503

Name	c.681_682ins446
Alias	Thr228fs
Description	Insertion of an L1Hs element (446bp) causing a frameshift and a stop at codon 275
Codon Change	From - to -
Phenotype	CMT4B
htz/hmz	hmz
Family History	familial

Parman et al., 2004 References		Genomic	cDNA	Protein
	Observed	c.681_682ins446
	Deduced		c.681_682ins446	T228fsX275
	Region	EX8	CDS
	Date Added: 31-Mar-05		ID: 735

Name	c.[826G>T;1480_1593del]+[826G>T;1480_1593del]
Alias	[Glu276X;Phe494_Glu531del]+[Glu276X;Phe494_Glu531del]
Description	Point mutation in coding region causing a stop mutation and a 5'-splice site mutation causing exon skipping
Codon Change	From - to -
Phenotype	CMT4B
htz/hmz	hmz
Family History	AR

Bolino et al., 2000 References		Genomic	cDNA	Protein
	Observed	c.[826G>T; 1480_1593del] + [826G>T; 1480_1593del]	c.[826G>T; 1480_1593del] + [826G>T; 1480_1593del]
	Deduced			E276X
	Region	EX9; EX13	CDS	none; SID
	Date Added: 10-May-00		ID: 433

Name	c.[841_844delATCA]+[?]
Alias	[Ile281fs]+[?]
Description	Deletion in coding region causing a frameshift and a stop at codon 290
Codon Change	From - to -
Phenotype	CMT4B
htz/hmz	htz
Family History	-

Parman et al., 2004 References		Genomic	cDNA	Protein
	Observed	c.[841_844delATCA]+[?]
	Deduced		c.[841_844delATCA]+[?]	[I281fsX290]+[?]
	Region	EX9	CDS
	Date Added: 31-Mar-05		ID: 736

Name	c.[847C>T]+[847C>T]
Alias	[Arg283Trp]+[Arg283Trp]
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From CGG to TGG
Phenotype	CMT4B
htz/hmz	hmz
Family History	AR

Nelis et al., 2002 References		Genomic	cDNA	Protein
	Observed	c. [847C>T] + [847C>T]
	Deduced		c. [847C>T] + [847C>T]	R283W
	Region	EX9	CDS
	Date Added: 04-Feb-03		ID: 634

Name	c.1131T>C
Alias	Thr377Thr
Description	Point mutation in coding region causing a silent mutation
Codon Change	From ACT to ACC
Phenotype	- (polymorphism)
htz/hmz	-
Family History	-

Bolino et al., 2001 Houlden et al., 2001 Nelis et al., 2002 References		Genomic	cDNA	Protein
	Observed	c.1131T>C
	Deduced		c.1131T>C	T377T
	Region	EX10	CDS
	Date Added: 28-Jun-01		ID: 495

Name	c.1233G>A
Alias	Thr411Thr
Description	Point mutation in coding region causing a silent mutation
Codon Change	From ACG to ACA
Phenotype	- (polymorphism)
htz/hmz	-
Family History	-

Bolino et al., 2001 References		Genomic	cDNA	Protein
	Observed	c.1233G>A
	Deduced		c.1233G>A	T411T
	Region	EX11	CDS
	Date Added: 28-Jun-01		ID: 496

Name	c.1233G>T
Alias	Thr411Thr
Description	Point mutation in coding region causing a silent mutation
Codon Change	From ACG to ACT
Phenotype	- (polymorphism)
htz/hmz	-
Family History	-

Houlden et al., 2001 References		Genomic	cDNA	Protein
	Observed	c.1233G>T
	Deduced		c.1233G>T	T411T
	Region	EX11	CDS
	Date Added: 28-Jun-01		ID: 501

Name	c.[1276C>T]+[1276C>T]
Alias	[Gln426X]+[Gln426X]
Description	Point mutation in coding region causing a stop mutation
Codon Change	From CAG to TAG
Phenotype	CMT4B
htz/hmz	hmz
Family History	AR

Bolino et al., 2000 References		Genomic	cDNA	Protein
	Observed	c.[1276C>T] + [1276C>T]	c.[1276C>T] + [1276C>T]
	Deduced			Q426X
	Region	EX11	CDS	PTP
	Date Added: 10-May-00		ID: 432

Name	c.[1444C>T]+[1444C>T]
Alias	[Gln482X]+[Arg477X]
Description	Point mutation in coding region causing a stop mutation
Codon Change	From CAA to TAA
Phenotype	CMT4B
htz/hmz	hmz
Family History	-

Bolino et al., 2000 References		Genomic	cDNA	Protein
	Observed	c.[1444C>T] + [1444C>T]
	Deduced		c.[1444C>T] + [1444C>T]	Q482X
	Region	EX12	CDS	SID
	Date Added: 10-May-00		ID: 434

Name	c.1504G>C
Alias	Glu502Gln
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GAG to CAG
Phenotype	- (polymorphism)
htz/hmz	htz
Family History	-

Bolino et al., 2001 References		Genomic	cDNA	Protein
	Observed	c.1504G>C
	Deduced		c.1504G>C	E502Q
	Region	EX13	CDS
	Date Added: 28-Jun-01		ID: 497

Name	c.[1634A>G]+[?]
Alias	[Asn545Ser]+[?]
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From AAC to AGC
Phenotype	CH
htz/hmz	compound htz
Family History	-

Bolino et al., 2001 References		Genomic	cDNA	Protein
	Observed	c.[1634A>G] + [?]
	Deduced		c.[1634A>G] + [?]	[N545S] + [?]
	Region	EX14	CDS
	Date Added: 28-Jun-01		ID: 499

Name	c.[1736delATTACATAAGinsCC]+[1736delATTACATAAGinsCC]
Alias	[Tyr579fs]+[Tyr579fs]
Description	Deletion and insertion in coding region causing a frameshift
Codon Change	From - to -
Phenotype	CMT4B
htz/hmz	hmz
Family History	-

Bolino et al., 2000 References		Genomic	cDNA	Protein
	Observed	c.[1736delATTACATAAGinsCC] + [1736delATTACATAAGinsCC]
	Deduced		c.[1736delATTACATAAGinsCC] + [1736delATTACATAAGinsCC]	Y579fsX599
	Region	EX14	CDS	none
	Date Added: 10-May-00		ID: 435

Name	c.1749G>A
Alias	Trp583X
Description	Point mutation in coding region causing a stop mutation
Codon Change	From TGG to TGA
Phenotype	CMT4B
htz/hmz	hmz
Family History	consanguineous

Verny et al., 2004 References		Genomic	cDNA	Protein
	Observed	c.1749G>A
	Deduced		c.1749G>A	W583X
	Region	EX14	CDS
	Date Added: 09-Sep-05		ID: 779

Name	c.[1805C>G]+[?]
Alias	[Ala602Gly]+[?]
Description	Point mutation in coding region causing an amino acid substitution
Codon Change	From GCT to GGT
Phenotype	CH
htz/hmz	compound htz
Family History	-

Bolino et al., 2001 References		Genomic	cDNA	Protein
	Observed	c.[1805C>G] + [?]
	Deduced		c.[1805C>G] + [?]	[A602G] + [?]
	Region	EX15	CDS
	Date Added: 28-Jun-01		ID: 500

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