Inherited Peripheral Neuropathies Mutation Database

Home | Inherited Peripheral Neuropathies |
Lookup Mutations | Newest Entries | Submit Mutation | Table Legend |
About IPN | Contact |

IPN Mutations

small logo

Mutations in HSPB8

Name c.421A>G
Alias Lys141Glu
Description Point mutation in coding region causing an amino acid substitution
Codon Change From AAG to GAG
Phenotype dHMN II
htz/hmz htz
Family History AD

Irobi et al., 2004
References

Genomic cDNA Protein
Observed c.421A>G
Deduced c.421A>G K141E
Region EX2 CDS alpha-crystallin
Date Added: 03-May-04 ID: 405

Name c.423G>C
Alias Lys141Asn
Description Point mutation in coding region causing an amino acid substitution
Codon Change From AAG to AAC
Phenotype dHMN II
htz/hmz htz
Family History AD

Irobi et al., 2004
References

Genomic cDNA Protein
Observed c.423G>C
Deduced c.423G>C K141N
Region EX2 CDS alpha-crystallin
Date Added: 03-May-04 ID: 406

Name c.423G>T
Alias Lys141Asn
Description Point mutation in coding region causing an amino acid substitution
Codon Change From to
Phenotype CMT2
htz/hmz htz
Family History AD

Tang et al., 2005
References

Genomic cDNA Protein
Observed c.423G>T
Deduced c.423G>T K141N
Region EX2 CDS alpha-crystallin
Date Added: 20-Jun-05 ID: 745



About Us | Contact Us | ©2007 Department of Molecular Genetics - VIB8