Define about missense mutation ?

Biochemistry
9th Edition
ISBN:9781319114671
Author:Lubert Stryer, Jeremy M. Berg, John L. Tymoczko, Gregory J. Gatto Jr.
Publisher:Lubert Stryer, Jeremy M. Berg, John L. Tymoczko, Gregory J. Gatto Jr.
Chapter1: Biochemistry: An Evolving Science
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Define about missense mutation ?

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Step 1

Mutations are changes in the DNA base sequence of any genome. Mutations can be caused naturally due to DNA replication errors or can be caused by ionizing radiation or chemicals such as mutagens. The DNA repair machinery monitors the DNA damage/mutation and tries to correct them; if not, they signal the cell to die.

 

Step 2

There are three categories of mutations in DNA:

  • DNA base substitutions
  • Insertions
  • Deletions

DNA base substitution is a type of mutation in which a DNA base is changed/replaced by another base resulting in the same or different amino acid in the protein sequence. Sometimes the base substitution may lead to a halt in protein synthesis due to change into a stop codon.

A missense mutation is a type of DNA base substitution mutation. A single change in the DNA base sequence leads to the incorporation of a different amino acid resulting in a protein with a wrong sequence. Sickel cell anemia is caused due to a missense mutation where GAG is changed to GTG, leading to a single main acid change in the beta-globin gene from glutamic acid to valine.

 

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