Mutation Details for c.3490_3491insT

cDNA Name c.3490_3491insT 
Protein Name p.Lys1165X 
Exon or Intron exon 22 
Legacy Exon or Intron exon 19 
Legacy Name 3622insT 
Other Details The above mutation was detected by SSCP/heteroduplex analysis and characterised by direct sequencing. It has not been observed previously on over 100 non-[delta]F508 CF chromosomes. 3622insT was observed in a 12 year old South Indian boy with high sweat chloride and features highly suggestive of CF. He was homozygous for this mutation. This mutation was not observed on 36 non-[delta]F508 chromosomes from suspected Indian CF patients. This work was supported by the British Paediatric Association (BPA). 
Contributors Kabra M, Wallace AJ, Kabra SK, Ghosh M, Verma IC   1996-06-21
Institute Genetic Unit, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India. Regional Molecular Genetics Lab, St Mary's Hospital, Manchester, UK. 
Submitted Phenotype Details The mutation was found in a 11 years old homozygous male patient diagnosed at 10. He is PI, has 120 mmol/l and severe lung disease. (pers. corr. Kabra) 
Reference Kabra et al. (NL#69) 

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The Database was last updated at Apr 25, 2011