Mutation Details for c.959T>A
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cDNA Name
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c.959T>A
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Protein Name
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p.Leu320X
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Exon or Intron
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exon 8
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Legacy Exon or Intron
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exon 7
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L320X
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Other Details
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This nonsense mutation was identified by direct sequencing. It was detected in a 3 month old French boy, carrying the [delta]F508 deletion on the other allele. The CF phenotype is severe with a positive sweat chloride test (140 mmol/l) and a lung colonization by Pseudomonas aeruginosa. The mutation creates a new restriction site for Tru9I.
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Contributors
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Iron A,
Reboul MP,
Fayon M,
Lacombe D
2001-11-20
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Institute
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UF de Biologie Moléculaire,
Service de Génétique Médicale,
CHU de Bordeaux, France
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Submitted Phenotype Details
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The 3.5 years old male CF patient was diagnosed at 1 month of age for iterative ENT infections, is PI, with chronic pulmonary symptoms and sweat chloride 140 mmol/l. He carries deltaF508 on the other allele. (pers. corr. Iron)
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Reference
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Iron et al. 2001
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