Mutation Details for c.1584G>T

cDNA Name c.1584G>T 
Protein Name p.Glu528Asp 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name E528D 
Other Details This mutation may affect the normal splicing of intron 10. It was found in a CBAVD patient bearing [delta]F508 on the other chromosome. Laboratories must be aware of this mutation which abolishes an EarI restriction site, as E528E (1716G/A) does, and which shows the same DGGE pattern. 
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 E528D was found in a male patient with CBAVD also carrying 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