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Point Mutation

A point mutation is a particular type of mutation that is responsible for the replacement of a single base nucleotide with another nucleotide. The term point mutation is also often used when referring to insertions or deletions of a single base pair. This has a somewhat negative effect on the synthesized proteins because the codons are no longer capable of being read in triplets but rather in different orders. This is a particular mutation called a frameshift mutation.

With regards to coding sequences, the point mutations can be grouped into the following: Nonsense mutations that code for a stop that can shorten the protein; missense mutations that code for a different amino acid, and; silent mutations that code for the same amino acid.

Point mutations that happen in non coding sequences are commonly without consequences but there are certain exceptions. If the mutated base pair is located in the promoter sequence of a gene then the expression of the gene could change. Additionally, if the mutation happens in the splicing seat of an intron, the result could be interference in the function of correctly splicing a transcribed pre mRNA.


Web Resources On Point Mutation

What is a Point Mutation
A point mutation in the regulatory light chain reduces the step size of skeletal muscle myosin


Book Resources On Point Mutation

Pcr Mutation Detection Protocols: Methods in Molecular Biology by Bimal D. M. Theophilus, Ralph Rapley
Mutation Breeding: Theory and Practical Applications by A. M. van Harten

Related Topics

Adaptive mutations

Codon

Mutation


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