Mutation Details for c.1951G>A

cDNA Name c.1951G>A 
Protein Name p.Asp651Asn 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name D651N 
Other Details D651N was detected by DGGE analysis and identified by automatic sequencing. The mutation destroys a Taq I restriction site. It was found once out of 120 control chromosomes, in a 60 years old male. It was absent in 104 chromosomes of Chronic Obstructive Pulmonary Disease (COPD) patients, in 46 chromosomes of Diffuse Bronchiectasis (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 This male individual in known to only have lung cancer. No ohter 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