Inherited Peripheral Neuropathies Mutation Database

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IPN Mutations

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Mutations in GDAP1

Name c.[92G>A]+[92G>A]
Alias [Trp31X]+[Trp31X]
Description Point mutation in coding region causing a stop mutation
Codon Change From TGG to TAG
Phenotype CMT4A
htz/hmz hmz
Family History AR

Baxter et al., 2002
References

Genomic cDNA Protein
Observed c.[92G>A]+[92G>A]
Deduced c.[92G>A]+[92G>A] W31X
Region EX1 CDS GST_N
Date Added: ID: 564

Name c.[311-1G>A]+[389C>G]
Alias [3'-splice site mutation]+[Ser130Cys]
Description Splice site mutation / Point mutation in coding region causing an amino acid substitution
Codon Change From [-]+[TCC] to [-]+[TGC]
Phenotype CMT2
htz/hmz compound htz
Family History isolated

Kabzinska et al., 2005
References

Genomic cDNA Protein
Observed c.[311-1G>A]+[389C>G]
Deduced c.[-]+[389C>G] [-]+[S130C]
Region IN3+EX3
Date Added: 21-Jun-05 ID: 752

Name c.[341_344delAAAG]+[487C>T]
Alias [Glu114fs]+[Gln163X]
Description Deletion in coding region causing a frameshift and a stop at codon 145/ point mutation in coding region causing an stop mutation
Codon Change From [-]+[CAA] to [-]+[TAA]
Phenotype CMT2
htz/hmz compound htz
Family History AR

Claramunt et al., 2005
References

Genomic cDNA Protein
Observed c.[341_344delAAAG]+[487C>T]
Deduced c.[341_344delAAAG]+[487C>T] E114fsX145+Q163X
Region EX3+EX4 CDS GST_N+a4-a5 loop
Date Added: 24-Jun-04 ID: 671

Name c.[341_344delAAAG]+[715C>T]
Alias [Glu114fs]+[Leu239Phe]
Description Deletion in coding region causing a frameshift and a stop at codon 145/ point mutation in coding region causing an amino acid substitution
Codon Change From [-]+[CTC] to [-]+[TTC]
Phenotype CMT4A
htz/hmz compound htz
Family History AR

Ammar et al., 2003
References

Genomic cDNA Protein
Observed c.[341_344delAAAG]+[715C>T]
Deduced c.[341_344delAAAG]+[715C>T] E114fsX145+L239F
Region EX3+EX6 CDS GST_N+GST_C
Date Added: 20-Nov-03 ID: 367

Name c.[347T>C]+[347T>C]
Alias [Met116Thr]+[Met116Thr]
Description Point mutation in coding region causing an amino acid substitution
Codon Change From ATG to ACG
Phenotype CMT2
htz/hmz hmz
Family History AR

Kabzinska et al., 2006
References

Genomic cDNA Protein
Observed c.[347T>C]+[347T>C]
Deduced c.[347T>C]+[347T>C] M116T
Region EX3 CDS GST_N
Date Added: 11-Dec-06 ID: 812

Name c.[347T>G]+[347T>G]
Alias [Met116Arg]+[Met116Arg]
Description Point mutation in coding region causing an amino acid substitution
Codon Change From ATG to AGG
Phenotype CMT4A (+pyramidal features)
htz/hmz hmz
Family History familial

Di Maria et al., 2004
Biancheri et al., 2006
References

Genomic cDNA Protein
Observed c.[347T>G]+[347T>G]
Deduced c.[347T>G]+[347T>G] M116R
Region EX3 CDS GST_N
Date Added: 31-Mar-05 ID: 732

Name c.[349_350insT]+[349_350insT]
Alias [Tyr117fs]+[Tyr117fs]
Description Insertion in coding region causing a frameshift and a stop at codon 129
Codon Change From - to -
Phenotype CMT4A
htz/hmz hmz
Family History AR

Senderek et al., 2003
References

Genomic cDNA Protein
Observed c.[349_350insT]+[349_350insT]
Deduced c.[349_350insT]+[349_350insT] Y117fsX129
Region EX3 CDS GST_N
Date Added: 04-Feb-03 ID: 611

Name c.358C>T
Alias Arg120Trp
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CGG to TGG
Phenotype CMT2
htz/hmz htz
Family History AD

Claramunt et al., 2005
References

Genomic cDNA Protein
Observed c.358C>T
Deduced c.358C>T R120W
Region EX3 CDS GST_N
Date Added: 24-Jun-04 ID: 672

Name c.[358C>T]+[811G>A]
Alias [Arg120Trp]+[Gly271Arg]
Description Point mutation in coding region causing an amino acid substitution
Codon Change From [CGG]+[GGA] to [TGG]+[AGA]
Phenotype CMT4A
htz/hmz compound htz
Family History AR

Ammar et al., 2003
References

Genomic cDNA Protein
Observed c.[358C>T]+[811G>A]
Deduced c.[358C>T]+[811G>A] R120W+G271R
Region EX3+EX6 CDS GST_N+GST_C
Date Added: 20-Nov-03 ID: 368

Name c.[359G>A]+[359G>A]
Alias [Arg120Gln]+[Arg120Gln]
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CGG to CAG
Phenotype DSS + vocal cord paresis + facial weakness
htz/hmz hmz
Family History AR

Boerkoel et al., 2003
References

Genomic cDNA Protein
Observed c.[359G>A]+[359G>A]
Deduced c.[359G>A]+[359G>A] R120Q
Region EX3 CDS GST_N
Date Added: 17-Mar-03 ID: 642

Name c.[439delA]+[439delA]
Alias [Thr147fs]+[Thr147fs]
Description Deletion in coding region causing a frameshift mutation and a stop
Codon Change From - to -
Phenotype CMT4A
htz/hmz hmz
Family History consanguineous

Georgiou et al., 2006
References

Genomic cDNA Protein
Observed c.[439delA]+[439delA]
Deduced c.[439delA]+[439delA] T147fsX151
Region EX3 CDS -
Date Added: 08-Jun-07 ID: 874

Name c.[445G>T]+[445G>T]
Alias [Asp149Tyr]+[Asp149Tyr]
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GAC to TAC
Phenotype CMT4A
htz/hmz hmz
Family History AR

Parman et al., 2004
References

Genomic cDNA Protein
Observed c.[445G>T]+[445G>T]
Deduced c.[445G>T]+[445G>T] D149Y
Region EX3 CDS
Date Added: 31-Mar-05 ID: 734

Name c.[458C>T]+[458C>T]
Alias [Pro153Leu]+[Pro153Leu]
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CCG to CTG
Phenotype CMT2 + hoarseness
htz/hmz hmz
Family History consanguineous

Kabzinska et al., 2007
References

Genomic cDNA Protein
Observed c.[458C>T]+[458C>T]
Deduced c.[458C>T]+[458C>T] [P153L]+[P153L]
Region EX3 CDS
Date Added: 27-Nov-07 ID: 900

Name c.469A>C
Alias Thr157Pro
Description Point mutation in coding region causing an amino acid substitution
Codon Change From ACT to CCT
Phenotype CMT2
htz/hmz htz
Family History de novo

Claramunt et al., 2005
References

Genomic cDNA Protein
Observed c.469A>C
Deduced c.469A>C T157P
Region EX3 CDS a4-a5 loop
Date Added: 24-Jun-04 ID: 673

Name c.[482G>A]+[482G>A]
Alias [Arg161His]+[Arg161His]
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CGT to CAT
Phenotype CMT4A
htz/hmz hmz
Family History AR

Baxter et al., 2002
Ammar et al., 2003
References

Genomic cDNA Protein
Observed c.[482G>A]+[482G>A]
Deduced c.[482G>A]+[482G>A] R161H
Region EX3 CDS
Date Added: 29-Mar-02 ID: 566

Name c.[485-2A>G]+[485-2A>G]
Alias [Ser162fsX166]+[Ser162fsX166]
Description Splice site mutation resulting in exon 4 skipping causing a frameshift and a premature stop at codon 166
Codon Change From - to -
Phenotype CMT4A
htz/hmz hmz
Family History AR

De Sandre-Giovannoli et al., 2003
References

Genomic cDNA Protein
Observed c.[485-2A>G]+[485-2A>G] c.485_579del
Deduced Ser162fsX166
Region IN3
Date Added: 20-Nov-03 ID: 366

Name c.[487C>T]+[487C>T]
Alias [Gln163X]+[Gln163X]
Description Point mutation in coding region causing a stop mutation
Codon Change From CAA to TAA
Phenotype CMT2 / DSS (+ vocal cord paresis + facial weakness)
htz/hmz hmz
Family History AR

Cuesta et al., 2002
Boerkoel et al., 2003
References

Genomic cDNA Protein
Observed c.[487C>T]+[487C>T]
Deduced c.[487C>T]+[487C>T] Q163X
Region EX4 CDS
Date Added: 29-Mar-02 ID: 561

Name c.[487C>T]+[581C>G]
Alias [Gln163X]+[Ser194X]
Description Double point mutation in coding region causing double stop mutation
Codon Change From [CAA] + [TCA] to [TAA] + [TGA]
Phenotype CMT2 with vocal cord paresis
htz/hmz compound htz
Family History AR

Cuesta et al., 2002
References

Genomic cDNA Protein
Observed c.[487C>T] + [581C>G]
Deduced c.[487C>T] + [581C>G] [Q163X] + [S194X]
Region EX4+EX5 CDS
Date Added: 29-Mar-02 ID: 562

Name c.[487C>T]+[863insA]
Alias [Gln163X]+[Thr288fs]
Description Point mutation in coding region causing a stop mutation and insertion in coding region causing a frameshift and a stop at codon 290
Codon Change From [CAA] + [-] to [TAA] + [-]
Phenotype CMT2 with vocal cord paresis
htz/hmz compound htz
Family History AR

Cuesta et al., 2002
References

Genomic cDNA Protein
Observed c.[487C>T] + [863insA]
Deduced c.[487C>T] + [863insA] [Q163X] + [T288fsX290]
Region EX4+EX6 CDS
Date Added: 29-Mar-02 ID: 563

Name c.507T>G
Alias Ser169Ser
Description Point mutation in coding region causing a silent mutation
Codon Change From TCT to TCG
Phenotype - (polymorphism)
htz/hmz -
Family History -

Senderek et al., 2003
References

Genomic cDNA Protein
Observed c.507T>G
Deduced c.507T>G S169S
Region EX4 CDS
Date Added: 04-Feb-03 ID: 612

Name c.[571C>T]+[715C>T]
Alias [Arg191X]+[Leu239Phe]
Description Point mutation in coding region causing a stop mutation + point mutation in coding region causing an amino acid substitution
Codon Change From [ACG]+[CTC] to [TCG]+[TTC]
Phenotype CMT4A
htz/hmz compound htz
Family History isolated

Barankova et al., 2007
References

Genomic cDNA Protein
Observed c.[571C>T]+[715C>T]
Deduced c.[571C>T]+[715C>T] [R191X]+[L239F]
Region EX4+EX6 CDS - + GST-C
Date Added: 08-Jun-07 ID: 875

Name c.[579+1G>A]+[579+1G>A]
Alias [5'-splice site]+[5'-splice site]
Description Splice site mutation
Codon Change From - to -
Phenotype CMT4A
htz/hmz hmz
Family History isolated

Senderek et al., 2003
References

Genomic cDNA Protein
Observed c.[579+1G>A]+[579+1G>A]
Deduced
Region IN4
Date Added: 04-Feb-03 ID: 613

Name c.[558delT]+[558delT]
Alias [Ile186fs]+[Ile186fs]
Description Deletion in coding region causing a frameshift and a stop at codon 205
Codon Change From - to -
Phenotype CMT2 + vocal cord and diaphragm paralysis
htz/hmz hmz
Family History AR

Stojkovic et al., 2004
References

Genomic cDNA Protein
Observed c.[558delT]+[558delT]
Deduced c.[558delT]+[558delT] I186fsX205
Region EX5 CDS
Date Added: 05-Jul-04 ID: 674

Name c.[581C>G]+[581C>G]
Alias [Ser194X]+[Ser194X]
Description Point mutation in coding region causing a stop mutation
Codon Change From TCA to TGA
Phenotype CMT4A
htz/hmz hmz
Family History AR

Baxter et al., 2002
Nelis et al., 2002
Birouk et al., 2003
Bouhouche et al., 2007
References

Genomic cDNA Protein
Observed c.[581C>G]+[581C>G]
Deduced c.[581C>G]+[581C>G] S194X
Region EX5 CDS
Date Added: 29-Mar-02 ID: 565

Name c.[581C>G]+[929G>A]
Alias [Ser194X]+[Arg310Gln]
Description Point mutation in coding region causing a stop mutation/Point mutation in coding region causing an amino acid substitution
Codon Change From to
Phenotype CMT2 (+vocal cord and diaphragm paresis)
htz/hmz compound htz
Family History AR

Azzedine et al., 2003
References

Genomic cDNA Protein
Observed c.[581C>G]+[929G>A]
Deduced c.[581C>G]+[929G>A] [S194X]+[R310Q]
Region EX5+EX6 CDS
Date Added: 18-Nov-03 ID: 361

Name c.[668T>A]+[668T>A]
Alias [Leu223X]+[Leu223X]
Description Point mutation in coding region causing a stop mutation
Codon Change From TTG to TAG
Phenotype CMT4A
htz/hmz hmz
Family History AR

De Sandre-Giovannoli et al., 2003
References

Genomic cDNA Protein
Observed c.[668T>A]+[668T>A]
Deduced c.[668T>A]+[668T>A] L223X
Region EX5 CDS GST_C
Date Added: 20-Nov-03 ID: 365

Name c.[715C>T]+[715C>T]
Alias [Leu239Phe]+[Leu239Phe]
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CTC to TTC
Phenotype CMT4A
htz/hmz hmz
Family History isolated

Kabzinska et al., 2006
Barankova et al., 2007
References

Genomic cDNA Protein
Observed c.[715C>T]+[715C>T]
Deduced c.[715C>T]+[715C>T] L239F
Region EX6 CDS GST_C
Date Added: 11-Dec-06 ID: 813

Name c.[786delG]+[786delG]
Alias [Gly262fs]+[Gly262fs]
Description Deletion in coding region causing a frameshift and a stop at codon 284
Codon Change From - to -
Phenotype CMT4A
htz/hmz hmz
Family History AR

Nelis et al., 2002
References

Genomic cDNA Protein
Observed c.[786delG]+[786delG]
Deduced c.[786delG]+[786delG] G262fsX284
Region EX6 CDS GST_C
Date Added: 04-Feb-03 ID: 609

Name c.[844C>T]+[844C>T]
Alias [Arg282Cys]+[Arg282Cys]
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CGT to TGT
Phenotype CMT4A
htz/hmz hmz
Family History AR

Nelis et al., 2002
Ammar et al., 2003
Senderek et al., 2003
References

Genomic cDNA Protein
Observed c.[844C>T]+[844C>T]
Deduced c.[844C>T]+[844C>T] R282C
Region EX6 CDS GST_C
Date Added: 04-Feb-03 ID: 610



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