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Inherited Peripheral Neuropathies Mutation Database

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Mutations in GDAP1

Name c.[311-1G>A]+[389C>G]
Alias [3'-splice site mutation]+[Ser130Cys]
Description Splice site mutation / Point mutation in coding region causing an amino acid substitution
Codon Change From [-]+[TCC] to [-]+[TGC]
Phenotype CMT2
htz/hmz compound htz
Family History isolated

Kabzinska et al., 2005
References

Genomic cDNA Protein
Observed c.[311-1G>A]+[389C>G]
Deduced c.[-]+[389C>G] [-]+[S130C]
Region IN3+EX3
Date Added: 21-Jun-05 ID: 752



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