Mutation Details for c.2255T>G

cDNA Name c.2255T>G 
Protein Name p.Ile752Ser 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name I752S 
Other Details The patient also carries D110H at the heterozygous state but the segregation has not been performed. No other mutation has been detected after extensive CFTR gene study. Biochemical and phylogenic inspection of the amino-acid change are in favor of a polymorphism. However, we cannot rule out a mild deleterious effect which can account for the atypical phenotype. 
Contributors E. Girodon, F. Niel, C. Costa, M. Goossens   2004-10-06
Institute Biochimie-Genetique, hopital Henri-Mondor, Creteil, France 
Submitted Phenotype Details This mutation was identified at the heterozygous state in a 13 yrs old Turkish patient having atypical chronic rhino-sinusitis and nasal polyposis. There is no other sign suggestive for CF. 

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The Database was last updated at Apr 25, 2011