Mutation Details for c.1679G>A
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cDNA Name
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c.1679G>A
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Protein Name
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p.Arg560Lys
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Exon or Intron
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exon 12
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Legacy Exon or Intron
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exon 11
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R560K
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Other Details
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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).
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Contributors
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Ferec C,
Guillermit H,
Verlingue C,
Quere I
1991-08-22
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Institute
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Centre de Transfusion Sanguine et de Biogenetique
Brest, France
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Phenotype Information
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CFTR2
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Reference
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Férec et al. 1992
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