Mutation Details for c.680T>G

cDNA Name c.680T>G 
Protein Name p.Leu227Arg 
Exon or Intron exon 6 
Legacy Exon or Intron exon 6a 
Legacy Name L227R 
Other Details The mutation is a T to G change at nucleotide 812 which would lead to a leucine-to-arginine replacement in the protein sequence at residue 227. The nucleotide substitution creates a MaeII restriction site. It was found in the homozygous state in a young girl born to Algerian cousins. The patient has pancreatic insufficiency and lung infections. 
Contributors Ghanem N, Costes B, Girodon E, Martin J, Goossens M   1993-10-05
Institute Unite de Recherches en Genetique Moleculaire et en Hematologie Creteil, France 
Phenotype Information CFTR2
Reference Ghanem et al. (NL#59) 

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The Database was last updated at Apr 25, 2011