Inherited Peripheral Neuropathies Mutation Database

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IPN Mutations

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Mutations in PRPS1

Name c.129A>C
Alias Glu43Asp
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GAA to GAC
Phenotype CMTX5
htz/hmz hemizygous
Family History XR

Kim et al., 2007
References

Genomic cDNA Protein
Observed c.129A>C
Deduced c.129A>C E43D
Region EX2 CDS
Date Added: 03-Dec-07 ID: 937

Name c.344T>C
Alias Met115Thr
Description Point mutation in coding region causing an amino acid substitution
Codon Change From ATG to ACG
Phenotype CMTX5
htz/hmz hemizygous
Family History XR

Kim et al., 2007
References

Genomic cDNA Protein
Observed c.344T>C
Deduced c.344T>C M115T
Region EX3 CDS
Date Added: 03-Dec-07 ID: 936



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