Inherited Peripheral Neuropathies Mutation Database

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IPN Mutations

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Mutations in NDRG1

Name c.[442C>T]+[442C>T]
Alias [Arg148X]+[Arg148X]
Description Point mutation in coding region causing a stop mutation
Codon Change From CGA to TGA
Phenotype HMSN-L
htz/hmz hmz
Family History AR

Kalaydjieva et al., 2000
Hunter et al., 2003
Parman et al., 2004
Claramunt et al., 2007
Echaniz-Laguna et al., 2007
References

Genomic cDNA Protein
Observed c.[442C>T] + [442C>T]
Deduced c.[442C>T] + [442C>T] R148X
Region EX7 CDS
Date Added: 06-Jun-00 ID: 436

Name c.[538-1G>A]+[538-1G>A]
Alias [3'-splice site]+[3'-splice site]
Description 3'-splice site mutation causing exon skipping
Codon Change From - to -
Phenotype HMSN-L
htz/hmz hmz
Family History isolated

Hunter et al., 2003
References

Genomic cDNA Protein
Observed c.[538-1G>A]+[538-1G>A] exon 9 skipping
Deduced in frame deletion
Region IN8
Date Added: 14-Nov-03 ID: 33



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