Mutation Details for c.2971A>G

cDNA Name c.2971A>G 
Protein Name p.Ile991Val 
Exon or Intron exon 18 
Legacy Exon or Intron exon 16 
Legacy Name I991V 
Other Details This mutation was detected by DGGE analysis and identified by automatic sequencing. It was found once out of 68 chromosomes, in an adult male patient with sarcoidosis. It was never observed in 104 chromosomes of Chronic Obstructive Pulmonary Disease (COPD) patients, in 46 chromosomes of Diffuse Bronchiectasis (DBE) patients, in 106 chromosomes of CF patients, and in 600 control chromosomes. 
Contributors Bombieri C, Belpinati F, Pignatti PF   2000-04-17
Institute Section of Biology and Genetics DMIBG, University of Verona, Italy 
Submitted Phenotype Details This individual (M) is known to only have sarcoidosis. No other muation was found. (Pers. corr. Bombieri) 
Reference Bombieri et al. 2000 

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Literature referencing this mutation. Sort by: 
Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.

  • Bombieri C, Luisetti M, Belpinati F, Zuliani E, Beretta A, Baccheschi J, Casali L, Pignatti PF   Increased frequency of CFTR gene mutations in sarcoidosis: a case/control association study.   2000 009;8(9):717-20

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The Database was last updated at Apr 25, 2011