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bockmann bockmann
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9 years ago
Mutations in the IL2RG gene cause approximately 30 percent of severe combined immunodeficiency disorder (SCID) cases. These mutations result in alterations to a protein component of cytokine receptors that are essential for proper development of the immune system.
The IL2RG gene is composed of eight exons and contains upstream and downstream sequences that are necessary for proper transcription and translation. Below are some of the mutations observed. For each, determine its likely influence on the IL2RG gene product (assume its length to be 375 amino acids).

Sort the mutations into the appropriate bins: Shorter protein, Longer protein, Same size protein, & Cannot be determined.

Mutations:
-nonsense mutation
-insertion in Exon 1, frameshift
-insertion in Exon 7, frameshift
-missense mutation
-deletion in Exon 2, frameshift
-deletion in Exon 2, in frame
-deletion of Exons 2 & 3
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Staff Member
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9 years ago
[Solved] Determine the effect of each mutation on the length of the protein.
Mastering in Nutritional Biology
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