Mutation Details for c.2434_2435insT
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cDNA Name
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c.2434_2435insT
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Protein Name
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p.Leu812PhefsX11
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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2566insT
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Other Details
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The mutation was detected by DGGE using chemical clamps and characterized by direct sequencing. The novel frameshift mutation 2566 insT, in exon 13, was detected in an Argentinian CF patient. This patient is homozygous for this mutation. He is pancreatic insufficient nad presents severe lung disease. This mutation is predicted to shift the reading frame of the protein and introduces a terminator codon (UGA) at amino acid position 822.
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Contributors
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Bienvenu T,
Tcherkoff L,
Kaplan JC,
Beldjord C
1994-11-17
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Institute
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Hopitaux de Paris
Paris, France
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Submitted Phenotype Details
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The homozygous Argentinian CF patient (male, 3y) had meconium ileus, is PI, has severe lung disease with Pseudomonas Aeruginosa colonization and sweat chloride 135 mmol/l. (pers. corr. Bienvenu)
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Reference
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Bienvenu et al. (NL#64)
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