Mutation Details for c.1666A>G

cDNA Name c.1666A>G 
Protein Name p.Ile556Val 
Exon or Intron exon 12 
Legacy Exon or Intron exon 11 
Legacy Name I556V 
Other Details This mutation was identified by direct sequencing; it is a point mutation A->G at nucleotide 1798, leading to a change from Isoleucine to Valine at position 556, a residue conserved between mouse and human CFTRs. The anomaly (I556L) was found once in an adult French patient with chronic bronchitis. No sequence variation has been found so far on his other chromosome. 
Contributors Ghanem N, Costes B, Martin J, Goossens    1992-08-12
Institute Centre Hospitalier Universitaire Henri Mondor Paris, Franc 
Submitted Phenotype Details The male patient (45 year-old) carries R31C on the other allele. He was diagnosed in childhood, being PS, with moderate pulmonary symptoms and positive sweat chloride; he is not infertile. The mutation was found in one additional patient with CBAVD. (pers. corr. Girodon)  
Reference Ghanem et al. (NL#50) 

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The Database was last updated at Apr 25, 2011