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Inherited Peripheral Neuropathies Mutation Database

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IPN Mutations

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Mutations in GJB1 (Cx32)

Name c.623A>G
Alias Glu208Gly
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GAG to GGG
Phenotype CMT1X
htz/hmz htz or hemizygous
Family History XD

Kochanski et al., 2001
References

Genomic cDNA Protein
Observed c.623A>G
Deduced c.623A>G E208G
Region EX2 CDS C
Date Added: 20-Jul-01 ID: 533



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