Mutation Details for c.346G>A
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cDNA Name
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c.346G>A
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Protein Name
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p.Glu116Lys
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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E116K
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Other Details
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A missense mutation in exon 4 of the CFTR gene was detected by DGGE and identified by direct sequencing. The nucleotide position 478 is chnaged from G to A, leading to a subsitution of glutamic acid for lysine at position 116. This mutation abolishes a MnI restriction site. The mutation on the other chromosome is the deletion of [delta]F508
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Contributors
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Costes B,
Girodon E,
Ghanem N,
Goossens M
1993-11-26
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Institute
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Unite de Recherches en Genetique Moleculaire et en Hematologie
Creteil, France
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Submitted Phenotype Details
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E116K was found in a 24y female, diagnosed with CF at 1y, PS, with moderate lung disease. She carried deltaF508 on the other allele. (pers. corr. Girodon)
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Reference
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Costes et al. (NL#60)
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