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A missense mutation, specifically in the beta chain of hemoglobin, leads to sickle cell anemia by replacing glutamic acid with valine.
Missense mutation causes sickle cell anemia. This mutation leads to the substitution of a different amino acid in the protein, resulting in the replacement of glutamic acid with valine in the beta chain of hemoglobin. The single nucleotide change from A to T at the 17th nucleotide triggers this mutation, causing significant health implications.
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