Mutation Details for c.3535_3536insTCAA
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cDNA Name
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c.3535_3536insTCAA
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Protein Name
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p.Thr1179IlefsX17
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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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3667ins4
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Other Details
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This mutation is a 4 nucleotide insertion TCAA after nucleotide position 3667. This insertion creates a stop codon (TGA) 45 nucleotides after the 3667 position and has been detected by SSCP analysis. The mutation destroys a HincII site.
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Contributors
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Novelli G,
Sangiuolo F,
Lo Cicero S,
Maceratesi P,
Dallapiccola B
1992-06-03
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Institute
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Croce Rossa Italiana
Roma, Italy
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Submitted Phenotype Details
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The homozygous 20 years old female patient is PS and has mild pulmonary symptoms.(pers. corr. Sangiuolo and Sangiuolo et al. 1993)
The mutation was found among other in patients with DBE. (Pignatti et al. 1995)
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Reference
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Sangiuolo et al. 1993
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