Mutation Details for c.350G>C

cDNA Name c.350G>C 
Protein Name p.Arg117Pro 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name R117P 
Other Details 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. 
Contributors Feldmann D, Magnier C, Chauve C, Sardet A   1994-11-04
Institute Hospital D'enfants Armand Trousseau Paris, France 
Submitted Phenotype Details 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) 
Reference Feldmann et a. (NL#64) 

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The Database was last updated at Apr 25, 2011