What is the Difference Between Substitution Insertion and Deletion Mutations?

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Substitution, insertion, and deletion mutations are different types of genetic alterations that occur in the DNA sequence. Here are the main differences between them:

  1. Substitution Mutations:
  • Involve the replacement of a single nucleobase with another.
  • Can be classified into transitions (purine to purine or pyrimidine to pyrimidine) or transversions (purine to pyrimidine or vice versa).
  • May be silent (no change in amino acid), missense (change in amino acid), or nonsense (premature stop signal).
  1. Insertion Mutations:
  • Involve the addition of one or more nucleotides into the DNA sequence.
  • Can cause frameshift mutations and sometimes alterations in the mRNA, affecting the final gene product.
  • Are usually provoked by transposable elements (TEs), and the removal of TEs can sometimes reverse insertions.
  1. Deletion Mutations:
  • Involve the removal of one or more nucleotides from the DNA sequence.
  • Can cause small deletions (removal of one or a few nucleotides) or larger deletions (removal of entire genes or several neighboring genes).
  • Often result in frameshift mutations and can alter the function of the affected protein or proteins.

In summary, substitution mutations involve the replacement of a nucleobase, insertion mutations involve the addition of nucleotides, and deletion mutations involve the removal of nucleotides. While substitution mutations generally do not cause frameshift mutations, both insertion and deletion mutations often result in such alterations.

Comparative Table: Substitution Insertion vs Deletion Mutations

The following table summarizes the differences between substitution, insertion, and deletion mutations:

Mutation Type Description Key Features Consequences
Substitution A nucleobase is replaced by another one. Exchange of a single base pair. Generally do not cause frameshift mutations, can be silent, missense, or nonsense mutations.
Insertion One or more nucleotides are added into the DNA sequence. Addition of extra nucleotides. Can cause frameshift mutations or alterations in mRNA, usually provoked by transposable elements (TE).
Deletion One or more nucleotides are removed from the DNA sequence. Removal of nucleotides. Causes frameshift mutations, highly unlikely to be reversed, can result in genetic disorders like Duchenne muscular dystrophy and cystic fibrosis.

Substitution mutations occur due to the substitution of a base pair from a different base pair, while insertion and deletion mutations are caused by the addition or removal of extra nucleotides into a DNA sequence. Substitution mutations generally do not cause frameshift mutations, whereas both insertion and deletion mutations can cause frameshift mutations.