Mutation Details for c.350G>C
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cDNA Name
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c.350G>C
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Protein Name
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p.Arg117Pro
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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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R117P
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Other Details
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A new missense mutation was found in exon 4 : R 117 P. The mutation was detected by DGGE analysis and identified by remplacement of an arginine residue by a proline at codon 117. The mutation creates new MnlI and NlaIV sites. The mutation was identified in one french CF chromosome. The patient has a mild lung disease and is sufficient pancreatic.
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Contributors
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Feldmann D,
Magnier C,
Chauve C,
Sardet A
1994-11-04
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Institute
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Hospital D'enfants Armand Trousseau
Paris, France
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Submitted Phenotype Details
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One patient (male, 17) diagnosed at 4y, PS, mild pulmonary disease (FEV1=89%), sweat chloride 69-83 mmol/l. Other mutation unknown.(pers. corr. Feldmann)
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Reference
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Feldmann et a. (NL#64)
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