Mutation Details for c.1007T>A

cDNA Name c.1007T>A 
Protein Name p.Ile336Lys 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name I336K 
Other Details This is a missense mutation which is caused by a subsitution of a T to an A nucleotide position 1139 thereby replacing an uncharged amino acid for an charged amino acid in the first transmembrane region of the CFTR gene. This mutation was found in 1 out of 61 unrelated Belgian CF chromosomes. 
Contributors Cuppens H, Marynen P, Cassiman JJ   1992-05-11
Institute University of Leuven Leuven, Belgium 
Phenotype Information CFTR2
Reference Cuppens et al. 1993 

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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.

  • Ferec C, Verlingue C, Guillermit H, Quere I, Raguenes O, Feigelson J, Audrezet MP, Moullier P, Mercier B   Genotype analysis of adult cystic fibrosis patients.   1993 010;2(10):1557-60
  • Ockenga J, Stuhrmann M, Ballmann M, Teich N, Keim V, Dork T, Manns MP   Mutations of the cystic fibrosis gene, but not cationic trypsinogen gene, are associated with recurrent or chronic idiopathic pancreatitis.   2000 008;95(8):2061-7

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The Database was last updated at Apr 25, 2011