Mutation Details for c.262_263delTT

cDNA Name c.262_263delTT 
Protein Name p.Leu88IlefsX22 
Exon or Intron exon 3 
Legacy Exon or Intron exon 3 
Legacy Name 394delTT 
Other Details This mutation was first detected by SSCP analysis and by heteroduplexes on PAGE, the identified by direct sequencing. This 2-bp deletion leads to a chain termination codon downstream in exon 4. It was present in one CF chromosome only, in a patient from southern France (98 chromosomes analyzed). 
Contributors Claustres M, Kjellberg P, Desgeorges M   1992-05-12
Institute Laboratoire de Biochimie Genetique Montpellier, France 
Phenotype Information CFTR2
Reference Claustres et al. 1993; Schwarz et al. 1994 

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The Database was last updated at Apr 25, 2011