In sickle cell anaemia, which amino acid modification occurs in the β-chain of amino acid? (a) V

In sickle cell anaemia, which amino acid modification occurs...

In sickle cell anaemia, which amino acid modification occurs in the $\beta$ -chain of amino acid?
(a) Valine $\rightarrow$ Glutamate
(b) Threonine $\rightarrow$ Valine
(c) Tyrosine $\rightarrow$ Glutamate
(d) Glutamate $\rightarrow$ Valine

Key Concepts

Amino Acid Substitution

Amino acid substitution involves the replacement of one amino acid in a protein with a different amino acid. The new amino acid can alter the protein’s chemical properties, stability, and overall structure, which may lead to functional changes in the protein.

Missense Mutation

A missense mutation is a type of point mutation in which the altered DNA sequence results in the substitution of one amino acid for another in the protein product. This change can affect the protein’s properties and activity, as seen in disorders where protein function is compromised.

Hemoglobin Structure

Hemoglobin is a tetramer composed of two alpha and two beta chains, and its proper function depends on the precise sequence of amino acids in these chains. Alterations in the amino acid sequence, particularly in the beta chain, can disrupt the protein’s normal behavior and lead to diseases such as sickle cell anemia.

Sickle Cell Anemia

Sickle cell anemia is a genetic disorder that affects the structure of hemoglobin, the protein in red blood cells responsible for oxygen transport. It exemplifies how a single genetic change can lead to a significant alteration in protein structure and function, resulting in the characteristic sickle-shaped cells and associated clinical symptoms.

Point Mutation

A point mutation is a change in a single nucleotide base in the DNA sequence. Such mutations can have varying impacts on protein structure and function, and in certain cases, like in sickle cell anemia, a single base change leads to a crucial amino acid substitution that affects protein behavior.

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