Mutation Details for c.3200C>A

cDNA Name c.3200C>A 
Protein Name p.Ala1067Asp 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name A1067D 
Other Details This substitution involves a residue conserved among species, located in an intracellular loop, and affects the charge of the CFTR protein. It was found at the homozygous state in a patient originating from India, and having a classical severe form of CF. A1067D creates a MaeIII restriction site. 
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 A1067D was found in a homozygous 7y old male patient diagnosed at 3y, PI, wuth mild pulmonary disease and positive sweat chloride. (pers. corr. Girodon) 
Reference Girodon et al. 1999 

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The Database was last updated at Apr 25, 2011