Mutation Details for c.933C>G

cDNA Name c.933C>G 
Protein Name p.Phe311Leu 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name F311L 
Other Details This mutation was observe on two CF chromosomes of French origin by DGGE and DNA sequencing. The affected children are PI. One is G551D/F311L and the other is [delta]F508/F311L. We think it is probably a disease causing mutation because it was never observed on more than 200 normal CF chromosomes screened in that exon, and for one of these children no other nucleotide change was observed through the 27 exons of the gene we have analyzed. 
Contributors Ferec C, Audrezet MP, Mercier B, Guillermit H, Verlingue C, Quere I   1992-03-05
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details Two patients, both of French origin, both are PI. One is G551D/F311L (female, 19y)with mild respiratory symptoms and the other is deltaF508/F311L. (pers.corr. Ferec) 
Reference FĂ©rec et al. 1992 

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The Database was last updated at Apr 25, 2011