Mutation Details for c.4202A>G

cDNA Name c.4202A>G 
Protein Name p.Glu1401Gly 
Exon or Intron exon 26 
Legacy Exon or Intron exon 23 
Legacy Name E1401G 
Other Details The mutation was identified in a CBAVD patient who was also found to carry deltaF508. No segregation analysis was performed yet. No other CFTR mutation was found after extensive screening of the coding regions. Biochemical and phylogenic inspection of the amino-acid change suggest a deleterious effect of E1401G. 
Contributors E. Girodon, M. Legendre, C. Costa, M. Goossens   2006-08-25
Institute Biochimie-Genetique, hopital Henri-Mondor, Creteil, France 
Submitted Phenotype Details CBAVD. Whether the patient has other minor CF symptoms has not been investigated yet. 

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The Database was last updated at Apr 25, 2011