Mutation Details for c.1705T>G
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cDNA Name
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c.1705T>G
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Protein Name
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p.Tyr569Asp
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Exon or Intron
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exon 13
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Legacy Exon or Intron
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exon 12
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Y569D
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Other Details
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Y569D was identified by direct DNA sequencing. The mutation was found in three Pakistani patients, presumed to be unrelated; all were from consanguineous partnerships and all homozygous for the mutation. 60 non-[delta]F508 chromosomes, of which 12 were Pakistani in origin, were negative for Y569D
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Contributors
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Malone G,
Schwarz M,
Haworth A
1995-02-14
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Institute
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Royal Manchester Children's Hospital,
England
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Phenotype Information
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CFTR2
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Reference
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Malone et al. (NL#65)
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