Mutation Details for c.3278T>C

cDNA Name c.3278T>C 
Protein Name p.Leu1093Pro 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name L1093P 
Other Details The above mutation was found by SSCP/HA in a compound heterozygote; the other mutation is N1303K. The patient is Caucasian, has pancreatic insufficiency, elevated sweat chloride concentrations (116 mEg/L on 12/13/67), and pulmonary disease that required a lung transplant.  
Contributors Wine J, Robinson C, Law T, Moss R   1996-08-19
Institute Stanford University, Stanford, California.  
Submitted Phenotype Details Patient (M) is 31y, has PI, severe lung disease (FEV1=33-45%) with PA colonisation and Aspergillosis and high sweat-chloride levels (116mM/l). He has severe oesophagitis, osteoporosis and has had a heart-lung transplant at age 30y. N1303K was found on the other allele. This is probably a Native American mutation. (Yee et al. 1999 and pers. corr. Wine)  
Reference Wine et al. (NL#69) 

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The Database was last updated at Apr 25, 2011