GENE MUTATION:

SUBSTITUTION
REPORTER:
1 Andree S. Mario

2 Marvin B. Aguilar

3 Glydel R. Laras

4 John Lester Ybañez

 GENE MUTATION:
SUBSTITUTION
Gene mutation substitution refers to a type of genetic mutation
where one nucleotide in a DNA sequence is replaced by another. This
substitution can result in different amino acids being incorporated
into the protein during translation, potentially altering the protein's
function. Depending on the specific substitution, it can be
categorized as a silent mutation (no change in amino acid), missense
mutation (change in one amino acid), or nonsense mutation
(introduction of a premature stop codon).
EXAMPLE'S OF GENE MUTATION:
SUBSTITUTION

1. Silent mutation: A substitution that doesn't result in a

change in the amino acid sequence due to the redundancy
of the genetic code. For example, changing the third
nucleotide in a codon, which may still code for the same
amino acid.

2. Missense mutation: A substitution that leads to a different amino acid being

incorporated into the protein. For instance, changing a single nucleotide in a
codon can result in a different amino acid being specified. An example is the
sickle cell anemia mutation, wh a single nucleotide substitution in une
hemoglobin gene leads to the substitution of glutamic acid with valine.
3. Nonsense mutation: A substitution that
introduces a premature stop codon, resulting in a
truncated, nonfunctional protein. For example, in
Duchenne muscular dystrophy, a nonsense
mutation in the dystrophin gene leads to the
premature termination of protein synthesis.
Thank
you!!