Inherited Peripheral Neuropathies Mutation Database

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IPN Mutations

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Mutations in PRX

Name c.[176T>C]+[2145T>A]
Alias [Leu59Pro]+[Cys715X]
Description Point mutation in coding region causing an amino acid substitution and point mutation in coding region causing a stop mutation
Codon Change From [CTG]+[TGT] to [CCG]+[TGA]
Phenotype CMT1
htz/hmz compound htz
Family History isolated

Bird, 2007
References

Genomic cDNA Protein
Observed c.[176T>C]+[2145T>A]
Deduced c.[176T>C]+[2145T>A] [L59P]+[C715X]
Region EX4+EX7 CDS
Date Added: 20-Nov-07 ID: 878

Name c.[247delC]+[247delC]
Alias [Arg82fs]+[Arg82fs]
Description Deletion in coding region causing a frameshift and a stop at codon 96
Codon Change From - to -
Phenotype DSS
htz/hmz hmz
Family History AR

Takashima et al., 2002
References

Genomic cDNA Protein
Observed c.[247delC]+[247delC]
Deduced c.[247delC]+[247delC] R82fsX96
Region EX6 CDS PDZ
Date Added: 25-Nov-02 ID: 571

Name c.306C>T
Alias Thr102Thr
Description Point mutation in coding region causing a silent mutation
Codon Change From ACC to ACT
Phenotype - (polymorphism)
htz/hmz -
Family History -

Boerkoel et al., 2001
References

Genomic cDNA Protein
Observed c.306C>T
Deduced c.306C>T T102T
Region EX6 CDS
Date Added: 28-Jun-01 ID: 529

Name c.[385_394dupATCCAGAGTC]+[3208C>T]
Alias [Leu132fs]+[Arg1070X]
Description Duplication in coding region causing a frameshift/ point mutation in coding region causing an stop mutation
Codon Change From [-]+[CGA] to [-]+[TGA]
Phenotype CMT1
htz/hmz compound htz
Family History isolated

Otagiri et al., 2006
References

Genomic cDNA Protein
Observed c.[385_394dupATCCAGAGTC]+[3208C>T]
Deduced c.[385_394dupATCCAGAGTC]+[3208C>T] [L132fsX153]+[R1070X]
Region EX7 CDS
Date Added: 12-Mar-07 ID: 855

Name c.[586C>T]+[586C>T]
Alias [Arg196X]+[Arg196X]
Description Point mutation in coding region causing a stop mutation
Codon Change From CGA to TGA
Phenotype CMT4F
htz/hmz hmz
Family History AR

Guilbot et al., 2001
References

Genomic cDNA Protein
Observed c.[586C>T] + [586C>T]
Deduced c.[586C>T] + [586C>T] R196X
Region EX7 CDS NLS3
Date Added: 28-Jun-01 ID: 515

Name c.[1102C>T]+[2289delT]
Alias [Arg368X]+[Val763fs]
Description Point mutation in coding region causing a stop mutation and deletion in coding region causing a frameshift and a stop at codon 774
Codon Change From to
Phenotype DSS
htz/hmz compound htz
Family History isolated

Boerkoel et al., 2001
References

Genomic cDNA Protein
Observed c.[1102C>T] + [2289delT]
Deduced c.[1102C>T] + [2289delT] [R368X] + [V763fsX774]
Region EX7 CDS
Date Added: 28-Jun-01 ID: 517

Name c.[1194_1197delTTCC]+[1194_1197delTTCC]
Alias Ser399fs
Description Deletion in coding region causing a frameshift and a stop at codon 410
Codon Change From - to -
Phenotype CMT4F
htz/hmz hmz
Family History isolated

Kabzinska et al., 2006
References

Genomic cDNA Protein
Observed c.[1194_1197delTTCC]+[1194_1197delTTCC]
Deduced c.[1194_1197delTTCC]+[1194_1197delTTCC] S399fsX410
Region EX7 CDS
Date Added: 11-Dec-06 ID: 811

Name c.1216G>A
Alias Ala406Thr
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GCT to ACT
Phenotype - (polymorphism)
htz/hmz -
Family History -

Boerkoel et al., 2001
References

Genomic cDNA Protein
Observed c.1216G>A
Deduced c.1216G>A A406T
Region EX7 CDS Repeat domain
Date Added: 28-Jun-01 ID: 522

Name c.1483G>C
Alias Glu495Gln
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GAG to CAG
Phenotype - (polymorphism)
htz/hmz -
Family History -

Boerkoel et al., 2001
References

Genomic cDNA Protein
Observed c.1483G>C
Deduced c.1483G>C E495Q
Region EX7 CDS Repeat domain
Date Added: 28-Jun-01 ID: 524

Name c.1491C>G
Alias Pro497Pro
Description Point mutation in coding region causing a silent mutation
Codon Change From CCC to CCG
Phenotype - (polymorphism)
htz/hmz -
Family History -

Boerkoel et al., 2001
References

Genomic cDNA Protein
Observed c.1491C>G
Deduced c.1491C>G P497P
Region EX7 CDS Repeat domain
Date Added: 28-Jun-01 ID: 530

Name c.[2145T>A]+[2145T>A]
Alias [Cys715X]+[Cys715X]
Description Point mutation in coding region causing a stop mutation
Codon Change From TGT to TGA
Phenotype CMT1
htz/hmz hmz
Family History AR

Takashima et al., 2002
References

Genomic cDNA Protein
Observed c.[2145T>A]+[2145T>A]
Deduced c.[2145T>A]+[2145T>A] C715X
Region EX7 CDS
Date Added: 25-Nov-02 ID: 570

Name c.2645T>G
Alias Val882Ala
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GCG to GTG
Phenotype - (polymorphism)
htz/hmz -
Family History -

Boerkoel et al., 2001
References

Genomic cDNA Protein
Observed c.2645T>G
Deduced c.2645T>G V882A
Region EX7 CDS
Date Added: 28-Jun-01 ID: 528

Name c.2655T>C
Alias Pro885Pro
Description Point mutation in coding region causing a silent mutation
Codon Change From CCT to CCC
Phenotype - (polymorphism)
htz/hmz -
Family History -

Boerkoel et al., 2001
References

Genomic cDNA Protein
Observed c.2655T>C
Deduced c.2655T>C P885P
Region EX7 CDS
Date Added: 28-Jun-01 ID: 531

Name c.2763A>G
Alias Ile921Met
Description Point mutation in coding region causing an amino acid substitution
Codon Change From ATA to ATG
Phenotype - (polymorphism)
htz/hmz -
Family History -

Boerkoel et al., 2001
References

Genomic cDNA Protein
Observed c.2763A>G
Deduced c.2763A>G I921M
Region EX7 CDS
Date Added: 28-Jun-01 ID: 527

Name c.[2787delC]+[2787delC]
Alias [Ser929fs]+[Ser929fs]
Description Deletion in coding region causing a frameshift and a stop at codon 957
Codon Change From - to -
Phenotype DSS
htz/hmz hmz
Family History isolated

Boerkoel et al., 2001
References

Genomic cDNA Protein
Observed c.[2787delC] + [2787delC]
Deduced c.[2787delC] + [2787delC] S929fsX957
Region EX7 CDS
Date Added: 28-Jun-01 ID: 518

Name c.[2787delC]+[2857C>T]
Alias [Ser929fs]+[Arg953X]
Description Deletion in coding region causing a frameshift and a stop at codon 957 and a point mutation in coding region causing a stop mutation
Codon Change From [-] + [CGA] to [-] + [TGA]
Phenotype DSS
htz/hmz compound htz
Family History AR

Boerkoel et al., 2001
References

Genomic cDNA Protein
Observed c.[2787delC] + [2857C>T]
Deduced c.[2787delC] + [2857C>T] [S929fsX957] + [R953X]
Region EX7 CDS
Date Added: 28-Jun-01 ID: 516

Name c.[3208C>T]+[3208C>T]
Alias [Arg1070X]+[Arg1070X]
Description Point mutation in coding region causing a stop mutation
Codon Change From CGA to TGA
Phenotype CMT1
htz/hmz hmz
Family History AR

Kijima et al., 2004
Parman et al., 2004
References

Genomic cDNA Protein
Observed c.[3208C>T]+[3208C>T]
Deduced c.[3208C>T]+[3208C>T] [R1070X]+[R1070X]
Region EX7 CDS
Date Added: 24-Aug-04 ID: 701

Name c.3248C>G
Alias Pro1083Arg
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CCG to CGG
Phenotype - (polymorphism)
htz/hmz -
Family History -

Boerkoel et al., 2001
References

Genomic cDNA Protein
Observed c.3248C>G
Deduced c.3248C>G P1083R
Region EX7 CDS
Date Added: 28-Jun-01 ID: 526

Name c.3394G>A
Alias Gly1132Arg
Description Point mutation in coding region causing an amino acid substitution
Codon Change From AGG to GGG
Phenotype - (polymorphism)
htz/hmz -
Family History -

Boerkoel et al., 2001
References

Genomic cDNA Protein
Observed c.3394G>A
Deduced c.3394G>A G1132R
Region EX7 CDS Acidic domain
Date Added: 28-Jun-01 ID: 525

Name c.3775G>A
Alias Glu1259Lys
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GAG to AAG
Phenotype - (polymorphism)
htz/hmz -
Family History -

Boerkoel et al., 2001
References

Genomic cDNA Protein
Observed c.3775G>A
Deduced c.3775G>A E1259K
Region EX7 CDS
Date Added: 28-Jun-01 ID: 521

Name c.4075_4077delGAG
Alias Glu1359del
Description Deletion in coding region causing an amino acid deletion
Codon Change From GAG to -
Phenotype - (polymorphism)
htz/hmz -
Family History -

Boerkoel et al., 2001
References

Genomic cDNA Protein
Observed c.4075_4077delGAG
Deduced c.4075_4077delGAG E1359del
Region EX7 CDS
Date Added: 28-Jun-01 ID: 523



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