Mutation Details for c.535C>A

cDNA Name c.535C>A 
Protein Name p.Gln179Lys 
Exon or Intron exon 5 
Legacy Exon or Intron exon 5 
Legacy Name Q179K 
Other Details This mutaion was detected by TTGE and DNA sequencing. It was found in a Hispanic cystic fibrosis patient. He had W1089X mutaion on the other allele. The patient had severe sinusitis aspergillosis, and poor weightgain.  
Contributors Zhang Y, Wong L submitted on Jan 1st, 2000. updated on Jan 21, 2000.    2000-01-21
Institute Institute for Molecular and Human Genetics Georgetown University Medical Center, Washington DC, USA 
Submitted Phenotype Details One patient (male) died at 31 , was diagnosed at 6 months of age, was PI, severe lung disease (FEV1 26% at 29 yrs), sweat chloride 79 mEq/l, sinusitis, poor weight gain, PA colonisation. W1089X on the other allele. (Wang et all 2000 and pers. corr. Wang) 
Reference Zhang & Wong 2000 

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The Database was last updated at Apr 25, 2011