Mutation Details for c.3905A>G

cDNA Name c.3905A>G 
Protein Name p.Lys1302Arg 
Exon or Intron exon 24 
Legacy Exon or Intron exon 21 
Legacy Name K1302R 
Other Details This mutation was identified in the partner of a CF patient. The individual carries S1235R on the other chromosome. Although residue K1302 is well conserved among species, there are arguments against a serious deleterious effect of the K1302R mutation: both Lys and Arg residues are basic; these residues are alternatively present at several positions of the CFTR protein, depending on species. 
Contributors E. Girodon, C. Costa, M. Goossens   2004-10-06
Institute Biochimie-Genetique, hopital Henri-Mondor, Creteil, France 
Submitted Phenotype Details Healthy individual. 

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The Database was last updated at Apr 25, 2011