Mutation Details for c.1588A>C

cDNA Name c.1588A>C 
Protein Name p.Ile530Leu 
Exon or Intron exon 12 
Other Details The above mutation was identified by SSCP analysis and characterized by direct DNA sequencing. The mutation was not found on 100 non-CF chromosomes. 
Contributors and Institutes
Prasad R - Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Singh M - Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Kaur G - Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Sharma N - Postgraduate Institute of Medical Education and Research, Chandigarh, India.
  
Submitted Phenotype Details This 4 month old female child presented with recurrent respiratory infections and loose stools since 2 months. Her sweat chloride level was 113 mEq/L, was PI, and chest x-ray showed pneumonia, consolidation and hyperinflated chest. Elder sib also had similar complaints and died of pneumonia (pers. corr. Prasad). 
Reference  

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The Database was last updated at Apr 25, 2011