Mutation Details for c.4357C>T

cDNA Name c.4357C>T 
Protein Name p.Arg1453Trp 
Exon or Intron exon 27 
Legacy Exon or Intron exon 24 
Legacy Name R1453W 
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 another 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 Patient (F) is 65y, has PS, severe lung disease (diffuse panbronchiolitis), sweat test was not done. 5T was found on the other allele. (Pers. corr. Yoshimura) 
Reference Yoshimura 1999 

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The Database was last updated at Apr 25, 2011