Mutation Details for c.2009_2010insA

cDNA Name c.2009_2010insA 
Protein Name p.Leu671IlefsX18 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name 2141insA 
Other Details A frameshift mutation 2142insA was detected in a French CF patient. The patient is pancreatic insufficient and carries [delta]F508 on the other chromosome. 2141insA was not found on further 50-[delta]F508 CF chromosomes. This mutation is predicted to shift the reading frame of the protein and introduce a terminator codon (UAA) at amino acid position 688. 
Contributors Bienvenu T, Cazaneuve C, Kaplan JC, Beldjord C   1993-01-31
Institute Hopitaux de Paris Paris, France 
Submitted Phenotype Details The mutation was found in a CF patient who carries deltaF508 on the other allele. (pers. corr. Bienvenu) 
Reference Bienvenu et al. (NL#61) 

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The Database was last updated at Apr 25, 2011