Mutation Details for c.3490_3491insT
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cDNA Name
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c.3490_3491insT
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Protein Name
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p.Lys1165X
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Exon or Intron
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exon 22
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Legacy Exon or Intron
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exon 19
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3622insT
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Other Details
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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).
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Contributors
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Kabra M,
Wallace AJ,
Kabra SK,
Ghosh M,
Verma IC
1996-06-21
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Institute
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Genetic Unit,
Department of Pediatrics,
All India Institute of Medical Sciences,
New Delhi, India.
Regional Molecular Genetics Lab,
St Mary's Hospital,
Manchester, UK.
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Submitted Phenotype Details
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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)
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Reference
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Kabra et al. (NL#69)
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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