Mutation Details for c.727A>C

cDNA Name c.727A>C 
Protein Name p.Met243Leu 
Exon or Intron exon 6 
Legacy Exon or Intron exon 6a 
Legacy Name M243L 
Other Details The mutation was found by screening CFTR mutations in 25 patients with diffuse panbronchiolitis using SSCP analysis and direct sequencing. It was detected in one of the CFTR alleles of a single patient with diffuse panbronchiolitis.  
Contributors Yoshimura K   1999-03-15
Institute Department of Gene Therapy Institute of DNA Medicine, Jikei University School of Medicine, Tokyo, Japan 
Submitted Phenotype Details (Pers. corr. Yoshimura) Patient (F) is 66y, has PS, severe lung disease (diffuse panbronhiolitis and negative sweat-chloride (32.8mM/l) tests. No other mutations were found. 
Reference Yoshimura 1999 

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The Database was last updated at Apr 25, 2011