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dexterm00 dexterm00
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7 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).

Determine the effect of each mutation on the length of the protein.

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
deletions of Exon 2 and 3

Sort the mutations into the appropriate:
short protein
longer protein
same size protein
cannot be determined
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Staff Member
7 years ago
Hi dexterm00, could you give us an update on what you did here?
- Master of Science in Biology
- Bachelor of Science (Biology)
- Bachelor of Education
Answer accepted by topic starter
tgb0077tgb0077
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7 years ago
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shorter protein:

deletion of exons 2 and 3

deletion in Exon 2, in frame

nonsense mutation

------
longer protein:

none

------
same size protein:

missense mutation

-------
cannot be determined:

deletion in Exon 2, frameshift

insertion in Exon 7, frameshift

insertion in Exon 1, frameshift
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- Master of Science in Biology
- Bachelor of Science (Biology)
- Bachelor of Education
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