A missense mutation results in the substitution of amino acids, contributing to the development of sickle cell anemia.
A missense mutation causes a different amino acid to be inserted in the protein, leading to altered protein structure and function. In the case of sickle cell anemia, a single nucleotide substitution changes the codon GAG (for glutamic acid) to GTG (which encodes valine) in the hemoglobin gene, resulting in the replacement of glutamic acid with valine in the protein chain.
This mutation in the beta chain of hemoglobin results in the creation of abnormal hemoglobin molecules, leading to the characteristic sickle shape of red blood cells in individuals with sickle cell anemia. The allele (S) for sickle cell anemia is a harmful autosomal recessive mutation, caused by the substitution of A by T at the 17th nucleotide of the hemoglobin gene.
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