Mutation Details for c.346G>A

cDNA Name c.346G>A 
Protein Name p.Glu116Lys 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name E116K 
Other Details A missense mutation in exon 4 of the CFTR gene was detected by DGGE and identified by direct sequencing. The nucleotide position 478 is chnaged from G to A, leading to a subsitution of glutamic acid for lysine at position 116. This mutation abolishes a MnI restriction site. The mutation on the other chromosome is the deletion of [delta]F508 
Contributors Costes B, Girodon E, Ghanem N, Goossens M   1993-11-26
Institute Unite de Recherches en Genetique Moleculaire et en Hematologie Creteil, France 
Submitted Phenotype Details E116K was found in a 24y female, diagnosed with CF at 1y, PS, with moderate lung disease. She carried deltaF508 on the other allele. (pers. corr. Girodon)  
Reference Costes et al. (NL#60) 

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The Database was last updated at Apr 25, 2011