Inherited Peripheral Neuropathies Mutation Database

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IPN Mutations

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Mutations in SH3TC2 (KIAA1985)

Name c.[26delG]+[26delG]
Alias [Arg9fs]+[Arg9fs]
Description Deletion in coding region causing a frameshift and a stop at codon 13
Codon Change From - to -
Phenotype CMT4
htz/hmz hmz
Family History AR

Senderek et al., 2003
References

Genomic cDNA Protein
Observed c.[26delG]+[26delG]
Deduced c.[26delG]+[26delG] R9fsX13
Region EX1 CDS
Date Added: 17-Nov-03 ID: 96

Name c.[217_227delGCTGCTCGGAGinsCCAGTAA]+[2191delG]
Alias [Ala73fs]+[Glu731fs]
Description Deletion and insertion in coding region causing a frameshift mutation and a stop + deletion in coding region causing a frameshift mutation and a stop
Codon Change From - to -
Phenotype CMT4
htz/hmz compound htz
Family History AR

Azzedine et al., 2006
References

Genomic cDNA Protein
Observed c.[217_227delGCTGCTCGGAGinsCCAGTAA]+[2191delG]
Deduced c.[217_227delGCTGCTCGGAGinsCCAGTAA]+[2191delG] [A73fs]+[E731fs]
Region EX3+EX11 CDS
Date Added: 05-Apr-07 ID: 866

Name c.[530-2A>G]+[530-2A>G]
Alias [5'-splice site]+[5'-splice site]
Description splice site mutation
Codon Change From - to -
Phenotype CMT4
htz/hmz hmz
Family History AR

Senderek et al., 2003
References

Genomic cDNA Protein
Observed c.[530-2A>G]+[530-2A>G]
Deduced
Region IN5
Date Added: 17-Nov-03 ID: 101

Name c.[920G>A]+[3326G>C]
Alias [Trp307X]+[Arg1109Pro]
Description Point mutation in coding region causing a stop mutation + point mutation in coding region causing an amino acid substitution
Codon Change From [TGG]+[CGA] to [TAG]+[CCA]
Phenotype CMT4
htz/hmz compound htz
Family History isolated

Azzedine et al., 2006
References

Genomic cDNA Protein
Observed c.[920G>A]+[3326G>C]
Deduced c.[920G>A]+[3326G>C] [W307X]+[R1109P]
Region EX8+EX14 CDS SH3-1 + -
Date Added: 08-Jun-07 ID: 867

Name c.[1171-1G>A]+[1171-1G>A]
Alias [3'-splice site]+[3'-splice site]
Description Splice site mutation
Codon Change From - to -
Phenotype CMT4
htz/hmz hmz
Family History consanguineous

Azzedine et al., 2006
References

Genomic cDNA Protein
Observed c.[1171-1G>A]+[1171-1G>A]
Deduced
Region IN10
Date Added: 08-Jun-07 ID: 868

Name c.[1586G>A]+[1586G>A]
Alias [Arg529Gln]+[Arg529Gln]
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CGG to CAG
Phenotype CMT4
htz/hmz hmz
Family History AR

Senderek et al., 2003
References

Genomic cDNA Protein
Observed c.[1586G>A]+[1586G>A]
Deduced c.[1586G>A]+[1586G>A] R529Q
Region EX11 CDS TPR1
Date Added: 17-Nov-03 ID: 278

Name c.[1747_1748delAG]+[1747_1748delAG]
Alias [Arg583fs]+[Arg583fs]
Description Deletion in coding region causing a frameshift and a stop at codon 586
Codon Change From - to -
Phenotype CMT4
htz/hmz hmz
Family History AR

Senderek et al., 2003
References

Genomic cDNA Protein
Observed c.[1747_1748delAG]+[1747_1748delAG]
Deduced c.[1747_1748delAG]+[1747_1748delAG] R583fsX586
Region EX11 CDS
Date Added: 17-Nov-03 ID: 280

Name c.[1969G>A]+[1969G>A]
Alias [Glu657Lys]+[Glu657Lys]
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GAG to AAG
Phenotype CMT4
htz/hmz hmz
Family History AR

Senderek et al., 2003
References

Genomic cDNA Protein
Observed c.[1969G>A]+[1969G>A]
Deduced c.[1969G>A]+[1969G>A] E657K
Region EX11 CDS
Date Added: 17-Nov-03 ID: 285

Name c.[1972C>T]+[1972C>T]
Alias [Arg658Cys]+[Arg658Cys]
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CGC to TGC
Phenotype CMT4
htz/hmz hmz
Family History consanguineous

Azzedine et al., 2006
References

Genomic cDNA Protein
Observed c.[1972C>T]+[1972C>T]
Deduced c.[1972C>T]+[1972C>T] [R658C]+[R658C]
Region EX11 CDS
Date Added: 08-Jun-07 ID: 869

Name c.[1972C>T]+[2860C>T]
Alias [Arg658Cys]+[Arg954X]
Description Point mutation in coding region causing an amino acid substitution/Point mutation in coding region causing a stop mutation
Codon Change From [CGC]+[CGA] to [TGC]+[TGA]
Phenotype CMT4
htz/hmz compound htz
Family History AR

Senderek et al., 2003
References

Genomic cDNA Protein
Observed c.[1972C>T]+[2860C>T]
Deduced c.[1972C>T]+[1972C>T] R658C+R954X
Region EX11 CDS
Date Added: 17-Nov-03 ID: 355

Name c.[1982T>C]+[2680C>T]
Alias [Leu662Pro]+[Arg954X]
Description Point mutation in coding region causing an amino acid substitution + point mutation in coding region causing a stop mutation
Codon Change From [CTC]+[CGA] to [CCC]+[TGA]
Phenotype CMT4
htz/hmz compound htz
Family History familial

Azzedine et al., 2006
References

Genomic cDNA Protein
Observed c.[1982T>C]+[2680C>T]
Deduced c.[1982T>C]+[2680C>T] [L662P]+[R954X]
Region EX11+EX11 CDS -
Date Added: 08-Jun-07 ID: 872

Name c.[2491_2492delAG]+[2491_2492delAG]
Alias [Ser831fs]+[Ser831fs]
Description Deletion in coding region causing a frameshift and a stop at codon 839
Codon Change From - to -
Phenotype CMT4
htz/hmz hmz
Family History AR

Senderek et al., 2003
References

Genomic cDNA Protein
Observed c.[2491_2492delAG]+[2491_2492delAG]
Deduced c.[2491_2492delAG]+[2491_2492delAG] S831fsX839
Region EX11 CDS
Date Added: 17-Nov-03 ID: 356

Name c.[2642A>T]+[2860C>T]
Alias [Asn881Ser]+[Arg954X]
Description Point mutation in coding region causing an amino acid substitution + point mutation in coding region causing a stop mutation
Codon Change From [AAT]+[CGA] to [ATT]+[TGA]
Phenotype CMT4
htz/hmz compound htz
Family History isolated

Azzedine et al., 2006
References

Genomic cDNA Protein
Observed c.[2642A>T]+[2860C>T]
Deduced c.[2642A>T]+[2860C>T] [N881S]+[R954X]
Region EX11+EX11 CDS TPR + TPR
Date Added: 08-Jun-07 ID: 871

Name c.[2710C>T]+[2710C>T]
Alias [Arg904X]+[Arg904X]
Description Point mutation in coding region causing a stop mutation
Codon Change From CGA to TGA
Phenotype CMT4
htz/hmz hmz
Family History consanguineous

Azzedine et al., 2006
References

Genomic cDNA Protein
Observed c.[2710C>T]+[2710C>T]
Deduced c.[2710C>T]+[2710C>T] [R904X]+[R904X]
Region EX11 CDS TPR
Date Added: 08-Jun-07 ID: 870

Name c.[2829T>G]+[2860C>T]
Alias [Tyr943X]+[Arg954X]
Description Point mutation in coding region causing a stop mutation
Codon Change From [TAT]+[CGA] to [TAG]+[TGA]
Phenotype CMT4
htz/hmz compound htz
Family History AR

Senderek et al., 2003
References

Genomic cDNA Protein
Observed c.[2829T>G]+[2860C>T]
Deduced c.[2829T>G]+[2860C>T] [Y943X]+[R954X]
Region EX11 CDS SH3
Date Added: 17-Nov-03 ID: 357

Name c.[2860C>T]+[2860C>T]
Alias [Arg954X]+[Arg954X]
Description Point mutation in coding region causing a stop mutation
Codon Change From CGA to TGA
Phenotype CMT4
htz/hmz hmz
Family History AR

Azzedine et al., 2006
References

Genomic cDNA Protein
Observed c.[2860C>T]+[2860C>T]
Deduced c.[2860C>T]+[2860C>T] [R954X]+[R954X]
Region EX11 CDS TRP
Date Added: 05-Apr-07 ID: 865

Name c.[2860C>T]+[3601C>T]
Alias [Arg954X]+[Gln1201X]
Description Point mutation in coding region causing a stop mutation
Codon Change From [CGA]+[CAG] to [TGA]+[TAG]
Phenotype CMT4
htz/hmz compound htz
Family History isolated

Senderek et al., 2003
References

Genomic cDNA Protein
Observed c.[2860C>T]+[3601C>T]
Deduced c.[2860C>T]+[3601C>T] R954X + Q1201X
Region EX11+EX16 CDS SH3
Date Added: 17-Nov-03 ID: 358

Name c.[3325C>T]+[3325C>T]
Alias [Arg1109X]+[Arg1109X]
Description Point mutation in coding region causing a stop mutation
Codon Change From CGA to TGA
Phenotype CMT4
htz/hmz hmz
Family History AR

Gooding et al., 2005
Claramunt et al., 2007
References

Genomic cDNA Protein
Observed c.[3325C>T]+[3325C>T]
Deduced c.[3325C>T]+[3325C>T] R1109X
Region EX14 CDS
Date Added: 12-Dec-06 ID: 830

Name c.[3341delC]+[3341delC]
Alias [Pro1114fs]+[Pro1114fs]
Description Deletion in coding region causing a frameshift and a stop at codon 1115
Codon Change From - to -
Phenotype CMT4
htz/hmz hmz
Family History AR

Senderek et al., 2003
References

Genomic cDNA Protein
Observed c.[3341delC]+[3341delC]
Deduced c.[3341delC]+[3341delC] P1114fsX1115
Region EX15 CDS
Date Added: 17-Nov-03 ID: 359



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