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Core Genetics & Mechanisms

Missense and Nonsense Mutations

Missense mutations change a single nucleotide in a coding region, resulting in a different amino acid in the protein sequence. Nonsense mutations convert a codon into a premature stop signal, producing truncated and often nonfunctional proteins.

Overview

Not all point mutations are created equal. Even a single base substitution can profoundly alter how a protein is built—changing its structure, activity, stability, or localization. Missense mutations lead to a single amino acid change, while nonsense mutations create a premature stop codon, truncating translation and often destroying protein activity altogether.

Frequently Asked Questions

Which is more severe—a missense or a nonsense mutation?

It depends on context. Nonsense mutations usually result in truncated, nonfunctional proteins, but a single missense mutation in a crucial domain can be equally damaging or even more pathogenic.

Can nonsense mutations be treated?

Some nonsense mutations respond to readthrough therapies, which allow ribosomes to bypass premature stop codons and produce full-length proteins.

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Related Terms

Point Mutation

A single-nucleotide change in a DNA sequence that can modify how a gene is expressed or how its protein product functions. Even a one-base change can dramatically alter phenotype, making point mutations crucial to understanding genetic disease, evolution, and therapeutic intervention.

Frameshift Mutation

A genetic alteration caused by the insertion or deletion of nucleotides that shifts the reading frame of a gene's coding sequence. This shift changes the downstream amino acid sequence and often introduces premature stop codons, resulting in truncated or nonfunctional proteins.

Knockin (KI) Mouse Models

A genetically engineered mouse in which a specific DNA sequence—such as a gene, cDNA, mutation, reporter, or human ortholog—is inserted into a defined genomic locus to add or modify gene function.

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