Inherited Peripheral Neuropathies Mutation Database

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IPN Mutations

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Mutations in NEFL

Name c.-42delT
Alias -
Description Deletion of 1 bp in 5'-UTR
Codon Change From - to -
Phenotype - (polymorphism)
htz/hmz -
Family History -

Yoshihara et al., 2002
References

Genomic cDNA Protein
Observed c.-42delT
Deduced c.-42delT -
Region 5'-UTR -
Date Added: 04-Feb-03 ID: 590

Name c.[19G>A]+[23C>G]
Alias [Glu7Lys]+[Pro8Arg]
Description Two point mutations in coding region causing two amino acid substitutions
Codon Change From [GAG] + [CCG] to [AAG] + [CGG]
Phenotype unspecified CMT
htz/hmz compound htz
Family History D

Jordanova et al., 2003
References

Genomic cDNA Protein
Observed c.[19G>A] + [23C>G]
Deduced c.[19G>A] + [23C>G] [E7K] + [P8R]
Region EX1 CDS Head
Date Added: 04-Feb-03 ID: 594

Name c.[22C>A;23C>G]
Alias Pro8Arg
Description Double point mutation in coding region causing an amino acid substitution
Codon Change From CCG to AGG
Phenotype CMT2
htz/hmz htz
Family History AD

De Jonghe et al., 2001
References

Genomic cDNA Protein
Observed c.[22C>A+23C>G]
Deduced c.[22C>A+23C>G] P8R
Region EX1 CDS Head
Date Added: 28-Jun-01 ID: 520

Name c.23C>A
Alias Pro8Gln
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CCG to CAG
Phenotype CMT1
htz/hmz htz
Family History D

Jordanova et al., 2003
References

Genomic cDNA Protein
Observed c.23C>A
Deduced c.23C>A P8Q
Region EX1 CDS Head
Date Added: 04-Feb-03 ID: 597

Name c.23C>G
Alias Pro8Arg
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CCG to CGG
Phenotype CMT1 or CMT1/2
htz/hmz htz
Family History D

Jordanova et al., 2003
Miltenberger-Miltenyi et al., 2007
References

Genomic cDNA Protein
Observed c.23C>G
Deduced c.23C>G P8R
Region EX1 CDS Head
Date Added: 04-Feb-03 ID: 595

Name c.23C>T
Alias Pro8Leu
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CCG to CTG
Phenotype CMT1
htz/hmz htz
Family History de novo

Jordanova et al., 2003
References

Genomic cDNA Protein
Observed c.23C>T
Deduced c.23C>T P8L
Region EX1 CDS Head
Date Added: 04-Feb-03 ID: 596

Name c.48_60dupGCGCTACGTGGAG
Alias Thr21fs
Description Duplication in coding region causing a frameshift
Codon Change From - to -
Phenotype CMT1
htz/hmz htz
Family History -

Leung et al., 2006
References

Genomic cDNA Protein
Observed c.48_60dupGCGCTACGTGGAG
Deduced c.48_60dupGCGCTACGTGGAG T21fsX
Region EX1 CDS Head
Date Added: 13-Mar-07 ID: 863

Name c.64C>A
Alias Pro22Thr
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

Yoshihara et al., 2002
References

Genomic cDNA Protein
Observed c.64C>A
Deduced c.64C>A P22T
Region EX1 CDS Head
Date Added: 04-Feb-03 ID: 586

Name c.64C>T
Alias Pro22Ser
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CCC to TCC
Phenotype CMT1/2
htz/hmz htz
Family History AD

Georgiou et al., 2002
Fabrizi et al., 2004
References

Genomic cDNA Protein
Observed c.64C>T
Deduced c.64C>T P22S
Region EX1 CDS Head
Date Added: 04-Feb-03 ID: 583

Name c.120A>T
Alias Ser40Ser
Description Point mutation in coding region causing a silent mutation
Codon Change From TCA to TCT
Phenotype - (polymorphism)
htz/hmz -
Family History -

Jordanova et al., 2003
References

Genomic cDNA Protein
Observed c.120A>T
Deduced c.120A>T S40S
Region EX1 CDS Head
Date Added: 04-Feb-03 ID: 601

Name c.192G>A
Alias Leu64Leu
Description Point mutation in coding region causing a silent mutation
Codon Change From TTG to TTA
Phenotype - (polymorphism)
htz/hmz -
Family History -

Jordanova et al., 2003
References

Genomic cDNA Protein
Observed c.192G>A
Deduced c.192G>A L64L
Region EX1 CDS Head
Date Added: 04-Feb-03 ID: 602

Name c.227T>C
Alias Val76Ala
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GTA to GCA
Phenotype - (polymorphism)
htz/hmz -
Family History -

Yoshihara et al., 2002
References

Genomic cDNA Protein
Observed c.227T>C
Deduced c.227T>C V76A
Region EX1 CDS head
Date Added: 04-Feb-03 ID: 591

Name c.268G>A
Alias Glu90Lys
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GAG to AAG
Phenotype CMT1
htz/hmz htz
Family History de novo

Jordanova et al., 2003
References

Genomic cDNA Protein
Observed c.268G>A
Deduced c.268G>A E90K
Region EX1 CDS Head
Date Added: 04-Feb-03 ID: 598

Name c.279G>A
Alias Gln93Gln
Description Point mutation in coding region causing a silent mutation
Codon Change From CAG to CAA
Phenotype - (polymorphism)
htz/hmz -
Family History -

Yoshihara et al., 2002
Choi et al., 2004
References

Genomic cDNA Protein
Observed c.279G>A
Deduced c.279G>A Q93Q
Region EX1 CDS 1a
Date Added: 04-Feb-03 ID: 592

Name c.281T>C
Alias Leu94Pro
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CTC to CCC
Phenotype CMT1/2
htz/hmz htz
Family History AD

Miltenberger-Miltenyi et al., 2007
References

Genomic cDNA Protein
Observed c.281T>C
Deduced c.281T>C L94P
Region EX1 CDS Coil 1a
Date Added: 27-Nov-07 ID: 913

Name c.293A>G
Alias Asn98Ser
Description Point mutation in coding region causing an amino acid substitution
Codon Change From AAT to AGT
Phenotype CMT1
htz/hmz htz
Family History isolated

Yoshihara et al., 2002
Jordanova et al., 2003
References

Genomic cDNA Protein
Observed c.293A>G
Deduced c.293A>G N98S
Region EX1 CDS Coil1a
Date Added: 04-Feb-03 ID: 588

Name c.423G>A
Alias Gln141Gln
Description Point mutation in coding region causing a silent mutation
Codon Change From CAG to CAA
Phenotype - (polymorphism)
htz/hmz -
Family History -

Jordanova et al., 2003
References

Genomic cDNA Protein
Observed c.423G>A
Deduced c.423G>A Q141Q
Region EX1 CDS Rod
Date Added: 04-Feb-03 ID: 603

Name c.446C>T
Alias Ala149Val
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GCG to GTG
Phenotype unspecified CMT
htz/hmz htz
Family History isolated

Yoshihara et al., 2002
References

Genomic cDNA Protein
Observed c.446C>T
Deduced c.446C>T A149V
Region EX1 CDS coil1
Date Added: 04-Feb-03 ID: 589

Name c.639C>G
Alias Ile213Met
Description Point mutation in coding region causing an amino acid substitution
Codon Change From ATC to ATG
Phenotype - (polymorphism)
htz/hmz htz
Family History -

Kabzinska et al., 2006
References

Genomic cDNA Protein
Observed c.639C>G
Deduced c.639C>G I213M
Region EX1 CDS Rod
Date Added: 11-Dec-06 ID: 816

Name c.667C>T
Alias Leu223Leu
Description Point mutation in coding region causing a silent mutation
Codon Change From CTG to TTG
Phenotype - (polymorphism)
htz/hmz -
Family History -

Jordanova et al., 2003
References

Genomic cDNA Protein
Observed c.667C>T
Deduced c.667C>T L223L
Region EX1 CDS Rod
Date Added: 04-Feb-03 ID: 604

Name c.720C>T
Alias Tyr240Tyr
Description Point mutation in coding region causing a silent mutation
Codon Change From TAC to TAT
Phenotype - (polymorphism)
htz/hmz -
Family History -

Jordanova et al., 2003
References

Genomic cDNA Protein
Observed c.720C>T
Deduced c.720C>T Y240Y
Region EX1 CDS Rod
Date Added: 04-Feb-03 ID: 605

Name c.995A>C
Alias Gln332Pro
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CAG to CCG
Phenotype CMT2
htz/hmz htz
Family History -

Mersiyanova et al., 2000
References

Genomic cDNA Protein
Observed c.995A>C
Deduced c.995A>C Q332P
Region EX1 CDS Coil2B
Date Added: 06-Jun-00 ID: 437

Name c.998T>C
Alias Leu333Pro
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CTG to CCG
Phenotype CMT2
htz/hmz htz
Family History isolated

Choi et al., 2004
References

Genomic cDNA Protein
Observed c.998T>C
Deduced c.998T>C L333P
Region EX1 CDS Rod
Date Added: 24-Mar-05 ID: 728

Name c.1186G>A
Alias Glu396Lys
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GAG to AAG
Phenotype CMT1 / CMT2
htz/hmz htz
Family History AD

Choi et al., 2004
Z├╝chner et al., 2004
References

Genomic cDNA Protein
Observed c.1186G>A
Deduced c.1186G>A E396K
Region EX3 CDS rod
Date Added: 17-May-04 ID: 417

Name c.1212C>T
Alias Ser404Ser
Description Point mutation in coding region causing a silent mutation
Codon Change From AGC to AGT
Phenotype - (polymorphism)
htz/hmz -
Family History -

Jordanova et al., 2003
References

Genomic cDNA Protein
Observed c.1212C>T
Deduced c.1212C>T S404S
Region EX3 CDS Tail
Date Added: 04-Feb-03 ID: 606

Name c.1402G>A
Alias Asp468Asn
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GAT to AAT
Phenotype - (polymorphism)
htz/hmz -
Family History -

Jordanova et al., 2003
References

Genomic cDNA Protein
Observed c.1402G>A
Deduced c.1402G>A D468N
Region EX3 CDS Tail
Date Added: 04-Feb-03 ID: 607

Name c.1458C>T
Alias Ala486Ala
Description Point mutation in coding region causing a silent mutation
Codon Change From GCC to GCT
Phenotype - (polymorphism)
htz/hmz -
Family History -

Jordanova et al., 2003
References

Genomic cDNA Protein
Observed c.1458C>T
Deduced c.1458C>T A486A
Region EX3 CDS Tail
Date Added: 04-Feb-03 ID: 608

Name c.1492G>A
Alias Ala498Thr
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GCC to ACC
Phenotype - (polymorphism)
htz/hmz -
Family History -

Yoshihara et al., 2002
References

Genomic cDNA Protein
Observed c.1492G>A
Deduced c.1492G>A A498T
Region EX4 CDS Tail
Date Added: 04-Feb-03 ID: 593

Name c.1573_1574insG
Alias Glu525fs
Description Insertion in coding region causing a frameshift and a stop at codon 532
Codon Change From - to -
Phenotype -(polymorphism)
htz/hmz htz
Family History -

Andrigo et al., 2005
References

Genomic cDNA Protein
Observed c.1573_1574insG
Deduced c.1573_1574insG E525fsX531
Region EX4 CDS Tail
Date Added: 21-Jun-05 ID: 748

Name c.1579_1581delGAG
Alias Glu527del
Description Deletion in coding region causing an amino acid deletion
Codon Change From - to -
Phenotype CMT1 / polymorphism
htz/hmz htz
Family History D

Yoshihara et al., 2002
Jordanova et al., 2003
Yamamoto et al., 2004
References

Genomic cDNA Protein
Observed c.1579_1581delGAG
Deduced c.1579_1581delGAG E527del
Region EX4 CDS Tail
Date Added: 04-Feb-03 ID: 600



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