Inherited Peripheral Neuropathies Mutation Database

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IPN Mutations

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Mutations in LITAF

Name c.146C>T
Alias Thr49Met
Description Point mutation in coding region causing an amino acid substitution
Codon Change From ACG to ATG
Phenotype CMT2 / polymorphism
htz/hmz htz
Family History -

Saifi et al., 2005
Beauvais et al., 2006
References

Genomic cDNA Protein
Observed c.146C>T
Deduced c.146C>T T49M
Region EX2 CDS
Date Added: 24-Mar-05 ID: 705

Name c.220+38T>C
Alias
Description
Codon Change From - to -
Phenotype - (polymorphism)
htz/hmz htz or hmz
Family History -

Saifi et al., 2005
References

Genomic cDNA Protein
Observed c.220+38T>C
Deduced c.220+38T>C
Region IN2
Date Added: 24-Mar-05 ID: 712

Name c.222T>C
Alias Ile74Ile
Description Point mutation in coding region causing a silent mutation
Codon Change From ATT to ATC
Phenotype - (polymorphism)
htz/hmz htz
Family History -

Bennett et al., 2004
References

Genomic cDNA Protein
Observed c.222T>C
Deduced c.222T>C I74I
Region EX3 CDS
Date Added: 13-May-04 ID: 407

Name c.274A>G
Alias Ile92Val
Description
Codon Change From ATC to GTC
Phenotype - (polymorphism)
htz/hmz htz or hmz
Family History -

Saifi et al., 2005
References

Genomic cDNA Protein
Observed c.274A>G
Deduced c.274A>G I92V
Region EX3 CDS
Date Added: 24-Mar-04 ID: 713

Name c.330C>T
Alias Asn110Asn
Description Point mutation in coding region causing a silent mutation
Codon Change From AAC to AAT
Phenotype - (polymorphism)
htz/hmz htz
Family History -

Saifi et al., 2005
References

Genomic cDNA Protein
Observed c.330C>T
Deduced c.330C>T N110N
Region EX3 CDS
Date Added: 24-Mar-05 ID: 707

Name c.332C>G
Alias Ala111Gly
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GCC to GGC
Phenotype CMT1
htz/hmz htz
Family History D

Latour et al., 2006
References

Genomic cDNA Protein
Observed c.332C>G
Deduced c.332C>G A111G
Region EX3 CDS
Date Added: 13-Mar-07 ID: 859

Name c.334G>A
Alias Gly112Ser
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GGT to AGT
Phenotype CMT1
htz/hmz htz
Family History AD

Street et al., 2003
Bennett et al., 2004
Saifi et al., 2005
Latour et al., 2006
References

Genomic cDNA Protein
Observed c.334G>A
Deduced c.334G>A G112S
Region EX3 CDS
Date Added: 04-Feb-03 ID: 640

Name c.334G>A + CMT1A duplication
Alias Gly112Ser + CMT1A duplication
Description Point mutation in coding region causing an amino acid substitution and a CMT1A duplication
Codon Change From GGT to AGT
Phenotype CMT1-severe
htz/hmz digenic
Family History AD

Meggouh et al., 2005
References

Genomic cDNA Protein
Observed c.334G>A + CMT1A duplication
Deduced c.334G>A + CMT1A duplication G112S +CMT1A duplication
Region EX3 CDS
Date Added: 12-Sep-05 ID: 780

Name c.344C>A
Alias Thr115Asn
Description Point mutation in coding region causing an amino acid substitution
Codon Change From ACC to AAC
Phenotype CMT1
htz/hmz htz
Family History AD

Street et al., 2003
References

Genomic cDNA Protein
Observed c.344C>A
Deduced c.344C>A T115N
Region EX3 CDS
Date Added: 04-Feb-03 ID: 639

Name c.346T>G
Alias Trp116Gly
Description Point mutation in coding region causing an amino acid substitution
Codon Change From TGG to GGG
Phenotype CMT1
htz/hmz htz
Family History D

Street et al., 2003
Bennett et al., 2004
References

Genomic cDNA Protein
Observed c.346T>G
Deduced c.346T>G W116G
Region EX3 CDS
Date Added: 04-Feb-03 ID: 641

Name c.364C>G
Alias Leu122Val
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CTG to GTG
Phenotype CMT1
htz/hmz htz
Family History isolated

Saifi et al., 2005
References

Genomic cDNA Protein
Observed c.364C>G
Deduced c.364C>G L122V
Region EX3 CDS CX(2-3)C
Date Added: 24-Mar-05 ID: 704

Name c.378-29C>T
Alias
Description
Codon Change From - to -
Phenotype - (polymorphism)
htz/hmz htz or hmz
Family History -

Saifi et al., 2005
References

Genomic cDNA Protein
Observed c.378-29C>T
Deduced c.378-29C>T
Region IN3
Date Added: 24-Mar-05 ID: 714

Name c.403C>A
Alias Pro135Thr
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CCC to ACC
Phenotype CMT1
htz/hmz htz
Family History AD

Latour et al., 2006
References

Genomic cDNA Protein
Observed c.403C>A
Deduced c.403C>A P135T
Region EX4 CDS
Date Added: 13-Mar-07 ID: 861

Name c.403C>T
Alias Pro135Ser
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CCC to TCC
Phenotype CMT1
htz/hmz htz
Family History AD

Latour et al., 2006
References

Genomic cDNA Protein
Observed c.403C>T
Deduced c.403C>T P135S
Region EX4 CDS
Date Added: 13-Mar-07 ID: 860

Name c.477G>A
Alias Lys159Lys
Description Point mutation in coding region causing a silent mutation
Codon Change From AAG to AAA
Phenotype - (polymorphism)
htz/hmz htz
Family History -

Saifi et al., 2005
References

Genomic cDNA Protein
Observed c.477G>A
Deduced c.477G>A K159K
Region EX4 CDS
Date Added: ID: 708

Name c.539C>G
Alias 3'UTR
Description
Codon Change From - to -
Phenotype - (polymorphism)
htz/hmz htz
Family History -

Saifi et al., 2005
References

Genomic cDNA Protein
Observed c.539C>G
Deduced c.539C>G
Region EX4 3'UTR
Date Added: ID: 709

Name c.585C>T
Alias 3'UTR
Description
Codon Change From - to -
Phenotype - (polymorphism)
htz/hmz htz
Family History -

Saifi et al., 2005
References

Genomic cDNA Protein
Observed c.585C>T
Deduced c.585C>T
Region EX4 3'UTR
Date Added: 24-Mar-05 ID: 710

Name c.629C>T
Alias 3'UTR
Description
Codon Change From - to -
Phenotype - (polymorphism)
htz/hmz htz
Family History -

Saifi et al., 2005
References

Genomic cDNA Protein
Observed c.629C>T
Deduced c.629C>T
Region EX4 3'UTR
Date Added: 24-Mar-05 ID: 711

Name c.671T>C
Alias 3'UTR
Description
Codon Change From - to -
Phenotype CMT1
htz/hmz htz
Family History isolated

Saifi et al., 2005
References

Genomic cDNA Protein
Observed c.671T>C
Deduced c.671T>C
Region EX4 3'UTR
Date Added: ID: 706



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