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Genetic mutations are permanent changes in the building blocks of a gene. These changes often help living things evolve by creating new traits that can be useful for survival. But sometimes, mutations can cause problems and lead to health issues or diseases.
Where a mutation happens and how it changes important proteins can affect health in different ways. Mutations can be grouped by how they change the DNA or the protein made from it. Here are the common types:
1. Insertion | Adding extra pieces of DNA. |
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2. Deletion | Losing pieces of DNA. |
3. Substitution | One unit of DNA is replaced by a different one |
4. Deletion-Insertion | Some DNA is removed, and new DNA is added in its place. |
5. Inversion | A section of DNA is flipped around. |
6. Duplication | A part of DNA is copied one or more times. |
7. Repeat Expansion | Certain DNA sequences get repeated more times than usual. |
8. Frameshift | Insertions or deletions that change the way the DNA is read, often messing up the whole protein |
Depending on how this change affects the protein made from the gene, substitutions are divided into two types:
Do You Know ?
Missense mutations can sometimes be beneficial by creating new protein functions that help organisms adapt to changing environments.
Nonsense mutations often trigger a cellular quality control process called nonsense-mediated decay, which helps prevent the production of faulty proteins by destroying the abnormal mRNA.
Below are the differences between missense and nonsense mutation:
Parameter | Missense Mutation | Nonsense Mutation |
|---|---|---|
Definition | A missense mutation is defined as a type of mutation where the substitution of different amino acids takes place into the amino acid sequence that results in nucleotide change. | Nonsense mutation is defined as a type of mutation where a premature stop codon is introduced into the mRNA sequence that results in a nucleotide change. |
The type of codon introduced | Missense mutation introduces a distinct codon. | Nonsense mutation introduces a stop codon at the site of mutation. |
Results into | Missense mutation results in a distinct amino acid. | Nonsense mutation results in the termination of a premature chain. |
Type of protein resulted | Missense mutation results into an incomplete protein. | Nonsense mutation results into a conserved protein. |
Type of proteins produced | Missense mutation produces proteins that are non-functional. | Nonsense mutation produces proteins that are functional, non-functional or can have a distinct function from the original proteins. |
Final product | Missense mutation results in a different amino acid sequence as a final product. | Nonsense mutation results in a unfinished or short protein as a final product. |
Leads to disorders | Missense mutation leads to genetic disorder such as Duchenne Muscular Dystrophy(DMD), Dravet syndrome and Hurler syndrome. | Nonsense mutation leads to sickle-cell disease, Mediated Amyotrophic Lateral Sclerosis(ALS) and Epidermolysis bullosa. |
A missense mutation alters a codon so that it codes for a different amino acid, which can change the proteinโs function or make it non-functional. On the other hand, a nonsense mutation changes a codon into a stop signal, causing the protein to be cut short and usually lose its function.