Types of Single Gene Mutations
This page delves deeper into the specific types of single gene mutations, providing more detailed explanations of nonsense and splice-site mutations. It also introduces the concepts of insertion, deletion, and frame-shift mutations.
Nonsense mutations result in a premature stop codon, leading to the production of a truncated protein. This type of mutation can have significant effects on protein function.
Definition: A nonsense mutation occurs when a nucleotide substitution creates a stop codon, resulting in a shorter protein.
Splice-site mutations affect how introns are removed and exons are joined during mRNA processing. These mutations can lead to the retention of introns or the exclusion of exons in the mature transcript.
Insertion or deletion mutations involve the addition or removal of nucleotides in the DNA sequence. These can cause frame-shift mutations, which have a major effect on the protein produced.
Highlight: Frame-shift mutations alter the reading frame of the genetic code, potentially changing all codons and amino acids after the mutation site.
The page also briefly introduces chromosomal mutations, which involve larger-scale changes to chromosome structure.
Vocabulary: Chromosomal mutations are substantial alterations in the structure or number of chromosomes, often with more severe consequences than single gene mutations.




