Mutation Details for c.567C>A

cDNA Name c.567C>A 
Protein Name p.Asn189Lys 
Exon or Intron exon 5 
Legacy Exon or Intron exon 5 
Legacy Name N189K 
Other Details This is a new mutation. 
Contributors Li N, Pu D-F, Pei P, Wang G-F, Li H-Ch   2004-09-25
Institute Department of Pulmonary Disease, Central Laboratory, First Hospital of Peking University, P.R.China 
Submitted Phenotype Details The Chinese girl (16y) was diagnosed as CF since 14. She presented recurrent productive cough with bilateral bronchiectasis especially obvious in upper right lung, parasinusitis and otitis media. Her sweat chloride and sodium were 108.9?3.3mmol/L and 126.6?5.4 mmol/L (n=3), respectively. She carried two heterozygous mutations, N189K from her father and 3821-3823delT from her mother in CFTR gene. Her parents had normal phenotype.  

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The Database was last updated at Apr 25, 2011