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Types of Mutations: Substitution, Insertions, Deletion and Frameshifts
A mutation is a permanent change in the DNA sequence of a gene. Sometimes mutations can be useful but mostly they are harmful as changes in DNA can change the way a cell behaves. As genes are a set of hereditary materials that contain instructions necessary for a cell to work so if some of these instructions go wrong the cell may not know how to function.

Following video very nicely explains the CONCEPT OF MUTATION (WHAT IS A MUTATION?), Significance of Mutation and Causes of Mutation:

Mutations can be inherited which means the mutated genetic code can be passed on to the next generations. For example heart disease, diabetes, stroke or high blood pressure, run in the family. If parents suffered from them, their children may also develop them. Ten million men in the U.S. are colour blind but less than 600,000 American women have the same disability. That's because this mutation is located on the X-chromosome. Men only have one X-chromosome, so that one is enough to induce the condition, but women have two X chromosomes, and they require the mutation in double set to experience the condition.

Mutations can also be acquired depending on what sort of environment a person lives in as some environmental agents can damage the DNA or when mistakes occur during cell division. For example radiations released during the nuclear disasters in Hiroshima and Nagasaki and Chernobyl are still affecting and causing mutations in the genetic makeup of the people living in those areas. Moreover, different types of cancers are also caused by mutations.

Types of Mutation:


A substitution is a mutation in which there is an exchange between two bases (i.e. a change in a single "chemical letter" such as switching a T to a C). Such a substitution could change a codon to one that encodes a different amino acid and cause a change in the protein produced. Sometimes substitutions may not effects the protein structure, such mutations are called silent mutations and sometimes they may change an amino-acid-coding codon to a single "stop" codon and cause an incomplete protein. This can seriously affect the protein structure which may completely change the organism.

Example of Substitution Mutation: Sickle Cell Anaemia is caused by substitution mutation, where in codon (GAG mutates to --> GTG) and leads to (Glu --> Val) change.


Insertions are mutations in which extra base pairs are inserted into a new place in the DNA. The number of base pairs inserted can range from one to thousands!

Example of Insertion Mutation: Huntington's disease and the fragile X syndrome are examples of insertion mutation wherein trinucleotide repeats are inserted into the DNA sequence leading to these diseases.


Deletions are mutations in which a section of DNA is lost, or deleted. The number of base pairs deleted can again range from one to thousands!
Insertions and Deletion mutations are often together dubbed as INDELS.

Example of Deletion Mutation: 22q11.2 deletion syndrome is caused by the deletion of some bases of chromosome 22. This disease is characterized by cleft palate, heart defects, autoimmune disorders etc.


Protein-coding DNA is divided into codons which are three bases long, insertions and deletions in these codons can completely change a gene so its message cannot be decoded correctly. Such mutations are called frameshift mutations. For example, consider the sentence, "The cat ate her rat." Each word represents a codon. If we delete the first letter and read the sentence in the same way, it doesn't make sense. Similarly if the codons become jumbled up, they would no longer make any sense, in such frameshifts, a similar error occurs at the DNA level, where the codons cannot be parsed correctly. This usually gives rise to truncated proteins that are as useless as "rca tet hce tee" is uninformative.

Examples of Frameshif Mutation:
Tay-Sachs Disease, Cancers of many types, Crohn's Disease, cystic fibrosis have been associated with Frameshift Mutation.

Following Video describes the various types of mutations in a very nice way:


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Types of Mutations: Substitution, Insertions, Deletion and Frameshifts - by NatashaKundi - 07-18-2010, 08:35 PM

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