Mutation Details for c.933C>G
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cDNA Name
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c.933C>G
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Protein Name
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p.Phe311Leu
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Exon or Intron
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exon 8
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Legacy Exon or Intron
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exon 7
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F311L
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Other Details
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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.
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Contributors
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Ferec C,
Audrezet MP,
Mercier B,
Guillermit H,
Verlingue C,
Quere I
1992-03-05
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Institute
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Centre de Transfusion Sanguine et de Biogenetique
Brest, France
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Submitted Phenotype Details
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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)
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Reference
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Férec et al. 1992
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