Mutation Details for c.451C>T
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cDNA Name
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c.451C>T
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Protein Name
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p.Gln151X
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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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Q151X
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Other Details
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This mutation was first detected by SSCP analysis and involves a C->T substituion at base 583. This predicts a glutamine to stop mutation at amino acid 151. The mutation is presnt in conjunction with [delta]F508 on the other chromosome in a CF patient of Mexican origin. IT was not found on 77 non-[delta] CF chromosomes.
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Contributors
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Shackleton S,
Harris A
1992-05-11
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Institute
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University of Oxford
Oxford, England
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Submitted Phenotype Details
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The mutation was found in a heterozygous for deltaF508 fetus whose parents are known CF carriers. (pers. corr. Harris)
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Reference
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Shackleton et al., 1992
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