Inherited Peripheral Neuropathies Mutation Database

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IPN Mutations

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Mutations in FGD4

Name c.[670C>T]+[670C>T]
Alias [Arg224X]+[Arg224X]
Description Point mutation in coding region causing a stop mutation
Codon Change From CGA to TGA
Phenotype CMT4H
htz/hmz hmz
Family History consanguineous

Stendel et al., 2007
References

Genomic cDNA Protein
Observed c.[670C>T]+[670C>T]
Deduced c.[670C>T]+[670C>T] [R224X]+[R224X]
Region EX5 CDS DH
Date Added: 03-Dec-07 ID: 926

Name c.[893T>C]+[893T>C]
Alias [Met298Thr]+[Met298Thr]
Description Point mutation in coding region causing an amino acid substitution
Codon Change From ATG to ACG
Phenotype CMT4H
htz/hmz hmz
Family History consanguineous

Delague et al., 2007
References

Genomic cDNA Protein
Observed c.[893T>C]+[893T>C] c.[893T>C]+[893T>C]
Deduced [M298T]+[M298T]
Region EX7 CDS DH
Date Added: 03-Dec-07 ID: 930

Name c.[893T>G]+[893T>G]
Alias [Met298Arg]+[Met298Arg]/[Met298fs]+[Met298fs]
Description Point mutation in coding region causing an amino acid substitution
Codon Change From ATG to AGG
Phenotype CMT4H
htz/hmz hmz
Family History consanguineous

Delague et al., 2007
Stendel et al., 2007
References

Genomic cDNA Protein
Observed c.[893T>G]+[893T>G] c.[894_993del100]+[894_993del100]
Deduced c.[893T>G]+[893T>G] [M298R]+[M298R]/[M298fsX306]+[M298fsX306]
Region EX7 CDS DH
Date Added: 03-Dec-07 ID: 927

Name c.[1628_1629delAG]+[1628_1629delAG]
Alias [Glu543fs]+[Glu543fs]
Description Deletion in coding region causing a frameshift and a stop at codon 547
Codon Change From - to -
Phenotype CMT4H
htz/hmz hmz
Family History consanguineous

Stendel et al., 2007
References

Genomic cDNA Protein
Observed c.[1628_1629delAG]+[1628_1629delAG]
Deduced c.[1628_1629delAG]+[1628_1629delAG] [E543fsX547]+[E543fsX547]
Region EX13 CDS
Date Added: 03-Dec-07 ID: 928

Name c.[1756G>T]+[1756G>T]
Alias [Gly586X]+[Gly586X]
Description Point mutation in coding region causing a stop mutation
Codon Change From GGA to TGA
Phenotype CMT4H
htz/hmz hmz
Family History isolated

Stendel et al., 2007
References

Genomic cDNA Protein
Observed c.[1756G>T]+[1756G>T]
Deduced c.[1756G>T]+[1756G>T] [G586X]+[G586X]
Region EX14 CDS FYVE
Date Added: 03-Dec-07 ID: 929



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