Mutation Details for c.1517T>G

cDNA Name c.1517T>G 
Protein Name p.Ile506Ser 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name I506S 
Other Details Allele specific amplification and PAA electrophoresis of exon 10 fragments had given discrepant results. By direct sequencing, we found a T to G transversion at nucleotide position 1649, exchanging a isoleucine for a serine (I506S). The second mutation is [delta]F508. The heteroduplex I506S/[delta]F508 can be distinguished from wt/[delta]F508 duplices, allowing for rapid screening of the mutation.  
Contributors Meitinger T, Aulehla-Scholz C, Bohm I, Deufel T   1992-05-02
Institute Ludwig-Maximilians-Universitat Munchen Germany 
Submitted Phenotype Details  
Reference Deufel et al. 1994 

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Literature referencing this mutation. Sort by: 
Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.

  • Deufel A, Deufel T, Golla A, Achatz H, Bertele-Harms R, Roscher AA, Meitinger T   Three novel mutations (I506S, S466X, 1651A-->T) in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) detected in patients of southern German descent.   1994;3(1):64-6

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The Database was last updated at Apr 25, 2011