Mutation Details for c.4086_4087insT

cDNA Name c.4086_4087insT 
Protein Name p.Lys1363X 
Exon or Intron exon 25 
Legacy Exon or Intron exon 22 
Legacy Name 4218insT 
Other Details This mutation is caused by an insertion of a T at nucleotide position 4218 (5'-CAGTTAAGG-3'). This mutation has been detected once among 56 unrelated Belgian CF chromosomes. 
Contributors Cuppens H, Marynen P, Cassiman JJ   1992-08-11
Institute University of Leuven Leuven, Belgium 
Submitted Phenotype Details The mutation was identified in 2 male CF patients, both diagnosed in infancy, one PS (24 years old at time of genetic analysis, 3272-26A->G on the other allele) and one PI (11 years old, N1303K on the other allele), both having mild respiratory symptoms and elevated sweat chloride. (pers. corr. De Boeck) 
Reference Cuppens et al. 1993 

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The Database was last updated at Apr 25, 2011