Mutation Details for c.2048A>G

cDNA Name c.2048A>G 
Protein Name p.Lys683Arg 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name K683R 
Other Details This missense was identified on a paternal allele and associated to delta F508 on the maternal allele when looking for CF mutations in a case of echogenic abnormalities in a fetus. K683R could be a polymorphism as K is not a conserved residue (Proline in mouse and Arginine in dogfish) and the aminoacid change is not severe.There is no case of CF in the two families. 
Contributors Chevalier-Porst F, Bozon D   2000-04-25
Institute Biochimie Pediatrique Hopital Debrousse, Lyon France 
Submitted Phenotype Details This individual may NOT be a CF patient. The mutation was found in a foetus infected with te Parvovirus. DeltaF508 was found on the otehr allele. (Pers. corr. Bozon) 
Reference Chevalier-Porst & Bozon 2000 

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The Database was last updated at Apr 25, 2011