Mutation Details for c.481T>G
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cDNA Name
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c.481T>G
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Protein Name
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p.Tyr161Asp
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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Y161D
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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 Swedish patient with atypical CF (second mutationL unknown).
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Contributors
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Zielenski J,
Tzountzouris J,
Tsui L-C,
Bjork E,
Strandvik B,
Wahlstrom J
1999-03-04
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Institute
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The Hospital for Sick Children,
Toronto, Canada
Sahlgrenska University Hospital,
Goteborg, Sweden
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Submitted Phenotype Details
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The mutation is associated with atypical CF phenotype. (pers. corr. Zielenski)
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Reference
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Zielenski et al. 1999
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