Mutation Details for c.1330_1331delAT

cDNA Name c.1330_1331delAT 
Protein Name p.Ile444X 
Exon or Intron exon 10 
Legacy Exon or Intron exon 9 
Legacy Name 1460delAT 
Other Details This frameshift mutation was detected by DGGE using chemical clamps and characterized by direct sequencing in exon 9 of the CFTR gene. The mutation was detected in a CF patient originating from Argentina. It is not possible to detremine at which point this deletion has occurred. The patient is pancreatic insufficient and presents a classical form of the disease. He carries the [delta]F508 defect on the other chromosome. The mutation was not found on further 50 non-[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 444.  
Contributors Bienvenu T, Tchertkoff L, Cazeneuve C, Beldjord C   1994-07-25
Institute Hopitaux de Paris Paris, France 
Submitted Phenotype Details  
Reference Bienvenu et al. (NL#63) 

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The Database was last updated at Apr 25, 2011