Mutation Details for c.4357C>T
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cDNA Name
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c.4357C>T
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Protein Name
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p.Arg1453Trp
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Exon or Intron
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exon 27
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Legacy Exon or Intron
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exon 24
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R1453W
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Other Details
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The mutation was found by screening CFTR mutations in 25 patients with diffuse panbronchiolitis using SSCP analysis and direct sequencing.
It was detected in one of the CFTR alleles of another patient with diffuse panbronchiolitis.
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Contributors
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Yoshimura K
1999-03-15
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Institute
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Department of Gene Therapy
Institute of DNA Medicine,
Jikei University School of Medicine,
Tokyo, Japan
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Submitted Phenotype Details
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Patient (F) is 65y, has PS, severe lung disease (diffuse panbronchiolitis), sweat test was not done.
5T was found on the other allele.
(Pers. corr. Yoshimura)
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Reference
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Yoshimura 1999
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