Question: Describe the most likely cause of the amino acid substitution?
The most likely cause of an amino acid substitution is a point mutation in the DNA sequence. Specifically, this occurs when a single nucleotide changes, leading to an altered codon in the mRNA. If this new codon codes for a different amino acid, the protein sequence is modified, which can impact its function.
Types of Point Mutations Leading to Amino Acid Substitution:
Missense Mutation: A single nucleotide change results in a different amino acid being incorporated into the protein. Example: Sickle cell disease is caused by a missense mutation in the hemoglobin gene.
Nonsense Mutation: A substitution creates a premature stop codon, leading to an incomplete, non-functional protein.
Frameshift Mutation (sometimes leading to substitution): Insertions or deletions of nucleotides shift the reading frame, altering multiple amino acids downstream.
Possible Consequences:
Neutral or Beneficial: Some substitutions have little or no effect on protein function or might even enhance it.
Harmful: Some substitutions disrupt protein structure or function, potentially leading to diseases.
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