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Base pair substitution

A base pair substitution, also known as a point mutation or a single nucleotide polymorphism (SNP), is a type of genetic mutation that involves the replacement of one nucleotide (base) with another at a specific position in a DNA molecule. This substitution results in a change in the genetic code and can have various consequences, depending on where it occurs within a gene or genome.

Base pair substitutions can be further categorized into two main types:

1. Transition: In a transition mutation, one purine base (adenine or guanine) is replaced by another purine base, or one pyrimidine base (cytosine or thymine) is replaced by another pyrimidine base. For example, a substitution of adenine (A) with guanine (G) is a transition mutation.

2. Transversion: In a transversion mutation, a purine base is replaced by a pyrimidine base or vice versa. For example, a substitution of adenine (A) with cytosine (C) is a transversion mutation. The effects of base pair substitutions can vary:

Silent Mutation: Sometimes, a base pair substitution results in a codon that still codes for the same amino acid. In this case, the mutation has no discernible effect on the resulting protein.

Missense Mutation: A base pair substitution can also lead to the incorporation of a different amino acid into the protein, potentially altering its structure and function. This is known as a missense mutation.

Nonsense Mutation: In some instances, a substitution can create a stop codon where there was none previously, leading to premature termination of protein synthesis. This is called a nonsense mutation.

Base pair substitutions play a significant role in genetic diversity and evolution. They contribute to the development of genetic variation within a population and can lead to the emergence of new traits over time. However, they can also be responsible for genetic diseases and disorders if they occur in critical regions of the genome or within specific genes.

Related Service

• GenScript offer Synthesis of SNPs and Rare Codon Analysis Tool

• Related Publications:

Analysis of single nucleotide polymorphism in human angiogenin using droplet-based microfluidics. (genscript.com)

Single nucleotide polymorphisms in CEL-HYB1 increase risk for chronic pancreatitis through proteotoxic misfolding (genscript.com)


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If you know of any terms that have been omitted from this glossary that you feel would be useful to include, please send detail to the Editorial Office at GenScript: [email protected]

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