Mutation Details for c.1690A>G

cDNA Name c.1690A>G 
Protein Name p.Lys564Glu 
Exon or Intron exon 13 
Other Details  
Contributors and Institutes
Baudis M. - Laboratoire de Genetique Moleculaire, CHU de Poitiers, France
Pasquet M.C. - Laboratoire de Genetique Moleculaire, CHU de Poitiers, France
El Seedy A. - Laboratoire de Genetique Moleculaire, CHU de Poitiers, France
Creveaux I. - Laboratoire de Genetique Moleculaire, CHU de Poitiers, France
Kitzis A. - Laboratoire de Genetique Moleculaire, CHU de Poitiers, France
  
Submitted Phenotype Details This man has a CBAVD. The K564E mutation was detected in CFTR gene by DGGE. The 27 exons were studied by DHPLC or DGGE. No other mutation was found. 
Reference  

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The Database was last updated at Apr 25, 2011