Mutation Details for c.3215C>T

cDNA Name c.3215C>T 
Protein Name p.Pro1072Leu 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name P1072L 
Other Details P1072L was detected by DGGE analysis and identified by automatic sequencing in a COPD patient with chronic bronchitis. The mutation creates an Alu I restriction site. It was found once out of 104 chromosomes of COPD patients. It was never observed in 120 control chromosomes, in 46 chromosomes of DBE patients, and in 104 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 This individual (M) is 47y. He is NOT a CF patient, but a COPD (chronic bronchitis) patient. FEV1=41.8% No other mutation was found. (Pers. corr. Bombieri; Bombieri et al. 1998) 
Reference Bombieri et al. (NL#70) 

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The Database was last updated at Apr 25, 2011