Mutation Details for c.313delA
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cDNA Name
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c.313delA
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Protein Name
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p.Ile105SerfsX2
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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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444delA
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Other Details
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This mutation was found in a single Black patient, and is a deletion of an A residue at nucleotide 444. This mutation destroys a HinfI site and creates a Sau3A site. The patient is homozygous for the I allele of MP6d. The mutation is not found on 3 other Black CF chromosomes or 146 Caucasian CF chromosomes. The mutation is detected with the exon 4 primers.
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Contributors
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Dean M,
Belle White M,
Gerrard B,
Stewart C
1990-03-02
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Institute
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null
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Submitted Phenotype Details
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Reference
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White et al. 1991a
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