Mutation Details for c.1331T>G
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cDNA Name
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c.1331T>G
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Protein Name
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p.Ile444Ser
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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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I444S
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Other Details
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The mutation was detected by multiplex heteroduplex analysis on the MDE gel matrix. It was found in one CF patient (second mutation: [delta]F508).
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Contributors
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Zielenski J,
Tzountzouris J,
Tsui L-C,
Nakielna B
1999-03-04
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Institute
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The Hospital for Sick Children,
Toronto, Canada
St. Paul's Hospital,
Vancouver, Canada
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Submitted Phenotype Details
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No additional clinical data available. See original note. (pers. corr. Zielenski)
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Reference
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Zielenski et al. 1999
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