Mutation Details for c.1907T>C

cDNA Name c.1907T>C 
Protein Name p.Leu636Pro 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name L636P 
Other Details L636P was detected by DGGE analysis and identified by automatic sequencing in a child with DBE. Sweat test and pancreatic function were normal. It was found once out of 28 chromosomes of children DBE patients. It was absent in 120 control chromosomes, in 104 chromosomes of COPD patients, in 46 chromosomes of DBE patients, and in 60 chromosomes of CF patients. 
Contributors Bombieri C, Benetazzo MG, Pignatti PF   1998-05-26
Institute Inst. Biology and Genetics, University of Verona 
Submitted Phenotype Details Patient (F) is 12y, has PS, normal lung function (FEV1=112%), normal swest-chloride levels and Diffuse Bronchiectasis. No other mutation was found. (Pers. corr. Bombieri) 
Reference Bombieri et al. (NL#70) 

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The Database was last updated at Apr 25, 2011