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Significant to complete loss of protein function vs partial to negligible loss of protein functionFrameshift mutation in the middle ofmperfect excision of a transposon that leaves a 10bp footprint in the first exon Deletion

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Significant to Complete Loss of Protein Function:

  • Frameshift mutation in the middle of a gene.
  • Imperfect excision of a transposon that leaves a 10bp footprint in the first exon.
  • Deletion of 2 base pairs just downstream of the start codon.
  • Missense mutation in a region of the gene that is required for proper folding/function of the protein.
  • Nonsense mutation in the third of fifteen exons.
  • Deletion of the promoter.

Partial to Negligible Loss of Protein Function:

  • Perfect excision of a transposon.
  • Silent mutation in a region of a gene that contains a conserved domain.
  • Deletion of 3 base pairs just upstream of the stop codon.
  • Replication slippage that deletes 10bp from the second intron.
  • Transversion in the first intron.
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