Using sickle cell anemia and beta thalessemia anemias as an example, describe how a base pair substitution and a base pair deletion affect the beta globin protein

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Sickle cell anemia is caused by a base-pair substitution. This changes one codon from encoding the amino acid glutamic acid to a codon that encodes the amino acid valine. The resulting beta globin protein changes since glutamic acid and valine have different charges. This makes part of the protein hydrophobic instead of hydrophic, which alters hemoglobin's behavior. Beta thalessemia, on the other hand, is caused by a base-pair deletion. This has a more profound effect on the resulting protein since it causes a frame-shift mutation. Due to this frame-shift, all of the following codons change, encoding for different amino acids, therefore drastically changing the protein.

Biology & Microbiology

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Biology & Microbiology