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Inherited Peripheral Neuropathies Mutation Database

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IPN Mutations

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Mutations in DCTN1

Name c.175G>A
Alias Gly59Ser
Description Point mutation in coding region causing an amino acid substitution
Codon Change From GGC to AGC
Phenotype dHMN with vocal fold paralysis
htz/hmz htz
Family History AD

Puls et al., 2003
References

Genomic cDNA Protein
Observed c.175G>A
Deduced c.175G>A G59S
Region EX2 CDS CAP-Gly motif
Date Added: 27-Mar-03 ID: 643



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