Mutation Details for c.1679G>A

cDNA Name c.1679G>A 
Protein Name p.Arg560Lys 
Exon or Intron exon 12 
Legacy Exon or Intron exon 11 
Legacy Name R560K 
Other Details The nucleotide change was identified once among 87 non-[delta]F508 chromosomes. tTHe patientis a compound heterozygote with 1717-1G->A on the other chromosome. She is 12 years old, with at this time a mild form of the disease. The mutation abolishes a HphI site in exon 11. The mutatee allele is 425 bp and the normal is 211 +214 after hphI digestion but the enzyme digestion identifies both the R560T and R560K. The R560K is a missense mutation and also probably a splice mutation because that position subsitutes AA for AG immediately up stream of the splice acceptor site, postition that has been reported to alter splicing (VIDAUD, PNAS, 86, 1041-1045). 
Contributors Ferec C, Guillermit H, Verlingue C, Quere I   1991-08-22
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Phenotype Information CFTR2
Reference FĂ©rec et al. 1992 

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The Database was last updated at Apr 25, 2011