Mutation Details for c.276A>T

cDNA Name c.276A>T 
Protein Name p.Glu92Asp 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name E92D 
Other Details The patient carries two other mutations: 3849+10kbC>T and R668C (2134C>T). Although segregation analysis was not performed, we suggest the putative 3849+10kbC>T;R668C/E92D compound genotype in the patient, as we already found the complex allele 3849+10kbC>T;R668C in another patient. Residue E92 is conserved between species but not in other proteins of the CFTR family, where Asp can be found instead. A mild splicing effect of the mutation is also possible. 
Contributors E. Girodon, F. Niel, C. Costa, M. Goossens   2004-10-06
Institute Biochimie-Genetique, hopital Henri-Mondor, Creteil, France 
Submitted Phenotype Details E92D was identified at the heterozygous state in a 78 yrs old patient having a mild and late presentation of CF, with disseminated bronchiectasis and pancreatic insufficiency. Sweat chloride values were around 40 mEq/l. 

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The Database was last updated at Apr 25, 2011