Mutation Details for c.2346C>A
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cDNA Name
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c.2346C>A
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Protein Name
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p.Asn782Lys
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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N782K
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Other Details
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This substitution is located in a region of the R domain which is not conserved among species, but it affects the charge of the CFTR protein. It could thus affect the maturation of the protein but demonstration of its deleterious effect remains to be done. The mutation was found in an adult female patient having hepatobiliary disorders. No other CFTR mutation was detected. N782K creates an ApoI restriction site.
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Contributors
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Girodon E,
Cazeneuve C,
Sternberg D,
Costes B,
Goossens M
1999-11-23
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Institute
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Service de Biochimie-Genetique
Hopital Henri-Mondor,
France
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Submitted Phenotype Details
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The mutation was found in an adult (73y) female patient having hepatobiliary disorders. She was first diagnosed at 37y, was PS, with no lung disease. She had primary sclerosing cholangitis, inflammatory bowel disease. (pers. corr. Girodon)
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Reference
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Girodon et al. 1999
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