Mutation Details for c.3592delG

cDNA Name c.3592delG 
Protein Name p.Val1198X 
Exon or Intron exon 22 
Legacy Exon or Intron exon 19 
Legacy Name 3724delG 
Other Details This mutation was detected by DGGE using chemical clamps and consists of a G deletion at nucleotide 3724 (3724delG). This frameshift generates a stop codon (TGA) immediately 3' to the deletion. This mutation destroys a AfIIII site and a MaeII site. In this case, the loss of MaeII site was confirmed on PCR product. This patient carries an yet unknown mutation on the other CF chromosome. 3724delG was not found in 149 others non-[delta]F508 CF chromosomes from France.  
Contributors Bienvenu T, Fonknechten N, Desclaux-Arramond F, Kaplan JC, Beldjord C   1993-03-31
Institute Hopitaux de Paris Paris, France 
Submitted Phenotype Details The mutation was found in a 2 year old male CF patient diagnosed at birth by routine trypsinogen testing. He is PI, has sweat chloride 85 mmol/l and mild respiratory symptoms with Pseudomonas Aeruginosa infection. He carries deltaF508 on the other allele. (pers. corr. Bienvenu) 
Reference Bienvenu et al. 1994b 

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The Database was last updated at Apr 25, 2011