Mutation Details for c.1420G>A

cDNA Name c.1420G>A 
Protein Name p.Glu474Lys 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name E474K 
Other Details This substitution involves a residue conserved among species and affects the charge of the CFTR protein. It was found in a young female carrying ^ÐF508 on the other chromosome. She had a sister deceased of CF in adulthood (decompensation of CF was observed after a pregnancy). She was healthy but had a positive sweat test. No other mutation was detected after complete analysis of the coding sequence by DGGE analysis, and screening for 3849+10kbC>T and and 1811+1.6kbA>G. Although analysis of the index case was not possible, we report it as a putative mutation and consider here another possible case of disease variability. 
Contributors Girodon E, Cazeneuve C, Sternberg D, Costes B, Goossens M   1999-11-23
Institute Service de Biochimie-Genetique Hopital Henri-Mondor, France 
Submitted Phenotype Details E474K was found in a 33y female diagnosed at 28y, PS, with no lung disease and positive sweat chloride. She also carries deltaF508 on the other allele. (pers. corr. Girodon)  
Reference Girodon et al. 1999 

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The Database was last updated at Apr 25, 2011