Mutation Details for c.1676C>T

cDNA Name c.1676C>T 
Protein Name p.Ala559Val 
Exon or Intron exon 12 
Legacy Exon or Intron exon 11 
Legacy Name A559V 
Other Details The mutation was identified in homozygosity in a 1-year-old Senegalese CF boy. Both parents were found heterozygotes. The mutation affects a signature motif for the ABC proteins. No other CFTR mutation was found after extensive screening of the coding regions and screening for large rearrangements.  
Contributors E. Girodon, C. Costa, M. Goossens   2006-08-25
Institute Biochimie-Genetique, hopital Henri-Mondor, Creteil, France 
Submitted Phenotype Details Classical CF with chest infections, pancreatic insufficiency, positive sweat test. 

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The Database was last updated at Apr 25, 2011