Mutation Details for c.4252G>T

cDNA Name c.4252G>T 
Protein Name p.Glu1418X 
Exon or Intron exon 27 
Legacy Exon or Intron exon 24 
Legacy Name E1418X 
Other Details E1418X is predicted to generate a mutant protein truncated of 63 residues. Analysis of the literature suggest a severe deleterious effect of truncated mutations with removal of more than 50 C terminal CFTR residues. This is in accordance with the description of phenotypes associated with C-terminal mutations in the CF mutation data base.  
Contributors E. Girodon, C. Costa, I. Sermet*, M. Goossens   2004-10-06
Institute Biochimie-Genetique, hopital Henri-Mondor, Creteil, France * Paediatrics, Hpital Necker-Enfants-Malades, Paris, France 
Submitted Phenotype Details This mutation was identified in compound heterozygosity with F508del in a CF neonate who had elevated IRT. Sweat chloride value: 120 mEq/l. The girl is still pancreatic sufficient. 

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The Database was last updated at Apr 25, 2011