What is "missense?

A missense mutation is a type of point mutation that results in a codon that codes for a different amino acid. This means that during protein synthesis, a different amino acid is incorporated into the polypeptide chain than the one specified by the original DNA sequence.

Here's a breakdown:

• What it is: A change in a single nucleotide base within a gene sequence.

• Effect on Protein: Instead of the correct amino acid, the mutated codon specifies a different amino acid. This can affect the protein's structure and function.

• Consequences: The impact of a missense mutation is variable.

  • It can be harmless, especially if the new amino acid has similar chemical properties to the original, or if it's located in a non-critical region of the protein.
  • It can significantly impair or abolish protein function, leading to genetic disorders.
  • Sometimes, it can even result in a protein with altered, potentially beneficial, function (though this is rare).

• Examples: Missense mutations are responsible for various genetic conditions, such as some forms of sickle cell anemia (where a single amino acid change in hemoglobin causes the disease).

• Detection: Missense mutations are detected using methods like DNA sequencing and other molecular diagnostic techniques.