Inherited Peripheral Neuropathies Mutation Database

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IPN Mutations

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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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