Mutation Details for c.235T>C

cDNA Name c.235T>C 
Protein Name p.Trp79Arg 
Exon or Intron exon 3 
Legacy Exon or Intron exon 3 
Legacy Name W79R 
Other Details The W79R mutation was detected on 1 chromosome in a CF patient of Swedish origin who carries a [delta]F508 mutation on the other allele. This alteration has not been observed on 179 US-Caucasian non-CF chromosomes by ASO analysis. The patient is a 12 year old male who was diagnosed at the age of one year old with sweat chloride concentration of 93 mM. He is pancreatic insufficient and suffers from mild lung disease complicated by Pseudomonas Aeruginosa infection. 
Contributors Macek MJr, Davis C, Hamosh A, Anvret M, Cutting GR   1993-07-19
Institute Johns Hopkins Medical Institutions Baltimore, MD, USA 
Submitted Phenotype Details The patient (male, 8) was diagnosed during the first year of life. He is PI, has mild pulmonary disease, and sweat chloride 93 mmol/l. DelF508 on the other allele. (pers. corr. Macek) 
Reference Macek et al. (NL#56) 

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The Database was last updated at Apr 25, 2011