Mutation Details for c.1676C>A

cDNA Name c.1676C>A 
Protein Name p.Ala559Glu 
Exon or Intron exon 12 
Legacy Exon or Intron exon 11 
Legacy Name A559E 
Other Details This substitution involves a residue conserved among species and affects the charge of the CFTR protein. It was found in a CF patient carrying [delta]508 on the other chromosome, and presenting with a severe classical form. 
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 A559E was found in a 22y F, diagnosed at 16y, PI, with moderate-severe lung disease and discordant sweat chloride and nasal polyposis. She 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