Mutation Details for c.2434_2435insT

cDNA Name c.2434_2435insT 
Protein Name p.Leu812PhefsX11 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name 2566insT 
Other Details The mutation was detected by DGGE using chemical clamps and characterized by direct sequencing. The novel frameshift mutation 2566 insT, in exon 13, was detected in an Argentinian CF patient. This patient is homozygous for this mutation. He is pancreatic insufficient nad presents severe lung disease. This mutation is predicted to shift the reading frame of the protein and introduces a terminator codon (UGA) at amino acid position 822. 
Contributors Bienvenu T, Tcherkoff L, Kaplan JC, Beldjord C   1994-11-17
Institute Hopitaux de Paris Paris, France 
Submitted Phenotype Details The homozygous Argentinian CF patient (male, 3y) had meconium ileus, is PI, has severe lung disease with Pseudomonas Aeruginosa colonization and sweat chloride 135 mmol/l. (pers. corr. Bienvenu) 
Reference Bienvenu et al. (NL#64) 

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The Database was last updated at Apr 25, 2011