Mutation Details for c.680T>G
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cDNA Name
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c.680T>G
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Protein Name
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p.Leu227Arg
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Exon or Intron
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exon 6
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Legacy Exon or Intron
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exon 6a
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L227R
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Other Details
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The mutation is a T to G change at nucleotide 812 which would lead to a leucine-to-arginine replacement in the protein sequence at residue 227. The nucleotide substitution creates a MaeII restriction site. It was found in the homozygous state in a young girl born to Algerian cousins. The patient has pancreatic insufficiency and lung infections.
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Contributors
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Ghanem N,
Costes B,
Girodon E,
Martin J,
Goossens M
1993-10-05
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Institute
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Unite de Recherches en Genetique Moleculaire et en Hematologie
Creteil, France
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Phenotype Information
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CFTR2
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Reference
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Ghanem et al. (NL#59)
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