Point mutation

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Point Mutation

A Point Mutation (pronounced: /pɔɪnt mjuːˈteɪʃən/) is a type of mutation that involves changes in a single nucleotide base pair in the DNA sequence.

Etymology

The term "Point Mutation" originates from the Latin word "punctum", meaning "point", and the Latin word "mutatio", meaning "change". It refers to the change at a specific point in the DNA sequence.

Definition

A Point Mutation is a genetic mutation where a single nucleotide base is changed, inserted or deleted from a sequence of DNA or RNA. Point mutations have a variety of effects on the resultant protein depending on the nature of the change.

Types of Point Mutations

There are three types of point mutations:

  1. Substitution: This is when one base pair is replaced by another. Substitutions can be of two types: Transitions and Transversions.
  2. Insertion: This is when an extra base pair is inserted into a DNA sequence.
  3. Deletion: This is when a base pair is removed from a DNA sequence.

Effects of Point Mutations

The effects of point mutations can vary greatly depending on the context within which they occur. They can lead to silent mutations, missense mutations, nonsense mutations, or frameshift mutations.

Related Terms

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