Mutation Details for c.3691delT
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cDNA Name
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c.3691delT
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Protein Name
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p.Ser1231ProfsX4
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Exon or Intron
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exon 22
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Legacy Exon or Intron
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exon 19
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3821delT
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Other Details
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This mutation was found in a single Soviet patient and is a deletion of a T residue at nucleotide 3821 in exon 19. A sample from the father was not available, and both the child and mother are heterozygous for MP6d. The mutation has not been found in 53 other Soviet CF chromosomes or in 96 CF chromosomes from North Americans.
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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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