Mutation Details for c.28A>C
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cDNA Name
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c.28A>C
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Protein Name
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p.Ser10Arg
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Exon or Intron
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exon 1
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Legacy Exon or Intron
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exon 1
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S10R
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Other Details
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S10R, a change of a neutral amino acid for a basic one, was found in one 4 year old boy, PI, with moderate pulmonary disease. R117H is also found on the S10R allele, with [delta]F508 on the other chromosome. The latter 3 mutations were found once on 174 non-[delta]F508 chromosomes.
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Contributors
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Hughes D,
Hill A,
Graham
1995-01-18
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Institute
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Belfast City Hospital
Northern Ireland
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Submitted Phenotype Details
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Reference
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Hughes et al. (NL # 65)
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