Inherited Peripheral Neuropathies Mutation Database

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IPN Mutations

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Mutations in RAB7

Name c.385C>T
Alias Leu129Phe
Description Point mutation in coding region causing an amino acid substitution
Codon Change From CTC to TTC
Phenotype CMT2B
htz/hmz htz
Family History AD

Verhoeven et al., 2003
References

Genomic cDNA Protein
Observed c.385C>T
Deduced c.385C>T L129F
Region EX3 CDS
Date Added: 04-Feb-03 ID: 636

Name c.471G>C
Alias Lys157Asn
Description Point mutation in coding region causing an amino acid substitution
Codon Change From AAG to AAC
Phenotype CMT2B
htz/hmz htz
Family History de novo

Meggouh et al., 2006
References

Genomic cDNA Protein
Observed c.471G>C
Deduced c.471G>C K157N
Region EX4 CDS
Date Added: 09-Mar-07 ID: 852

Name c.482A>C
Alias Asn161Thr
Description Point mutation in coding region causing an amino acid substitution
Codon Change From AAC to ACC
Phenotype CMT2B
htz/hmz htz
Family History AD

Houlden et al., 2004
References

Genomic cDNA Protein
Observed c.482A>C
Deduced c.482A>C N161T
Region EX4 CDS
Date Added: 31-Mar-05 ID: 733

Name c.484G>A
Alias Val162Met
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GTG to ATG
Phenotype CMT2B
htz/hmz htz
Family History AD

Verhoeven et al., 2003
References

Genomic cDNA Protein
Observed c.484G>A
Deduced c.484G>A V162M
Region EX4 CDS
Date Added: 04-Feb-03 ID: 637



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