Mutation Details for c.1330_1331delAT
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cDNA Name
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c.1330_1331delAT
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Protein Name
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p.Ile444X
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Exon or Intron
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exon 10
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Legacy Exon or Intron
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exon 9
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1460delAT
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Other Details
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This frameshift mutation was detected by DGGE using chemical clamps and characterized by direct sequencing in exon 9 of the CFTR gene. The mutation was detected in a CF patient originating from Argentina. It is not possible to detremine at which point this deletion has occurred. The patient is pancreatic insufficient and presents a classical form of the disease. He carries the [delta]F508 defect on the other chromosome. The mutation was not found on further 50 non-[delta]F508 CF chromosomes. This mutation is predicted to shift the reading frame of the protein and introduce a terminator codon (UAA) at amino acid position 444.
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Contributors
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Bienvenu T,
Tchertkoff L,
Cazeneuve C,
Beldjord C
1994-07-25
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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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Reference
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Bienvenu et al. (NL#63)
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