Sickle Cell Disease Mutation
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Sickle-cell disease results from a point mutation in the second nucleotide of the codon GAA, changing it to GUA. This results in a change in the amino acid at position 6 in the hemoglobin protein. This solution shows the effect that this mutation would have on the amino acid encoded by this codon, using as an example an RNA molecule consisting of multiple repeats of the relevant codons. The effects of reading these RNA molecules in different reading frames is also illustrated.
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Solution Summary
This solution details the effect of the single point mutation responsible for the sickle cell trait on the protein encoded by the affected hemoglobin gene.
Solution Preview
Changing the codon from GAA to GUA changes from Glu to Val.
RNA:
GAAGAAGAAGAAGAAGAAGAAGAAGAAGAA...
Peptide Sequences:
First reading frame: Glu-Glu-Glu-Glu-Glu-Glu-Glu-Glu-Glu-Glu...
Second ...
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