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A missense mutation occurs when a nucleotide change results in a different amino acid being incorporated into the protein.
Ref: NCERT Class 12 Biology Chapter 5: Molecular Basis of Inheritance DNA Structure Double Helix and Packaging - Nucleosome
Missense mutation is non-synonymous point substitution changing single codon to encode different amino acid, altering polypeptide primary sequence at one position. Impact ranges from conservative replacement preserving charge and size with minimal effect to radical change disrupting hydrophobic core, active site, or protein-protein interface. Mutant protein may exhibit reduced stability, altered kinetics, or dominant-negative interference. Classic illustration is hemoglobin S where glutamate at position six becomes valine, promoting polymerization under deoxygenation and sickling phenotype. This principle illustrates essential molecular mechanisms governing replication fidelity and mutation fixation relevant for exam interpretation.
Ref: Lodish et al., Molecular Cell Biology, 9th ed., Chapter 9: Missense Mutation Consequences for Protein Structure
