4. Mutations Flashcards
Single gene mutations, splice site mutations and chromosomal mutations
What is a substitution mutation?
One single base is swapped for another
What are the 2 potential consequences of a substitution mutation?
Missense and Nonsense
What is a missense mutation?
The wrong amino acid is added to the protein
What is a nonsense mutation?
A premature stop codon is reached making a shorter protein
What is an insertion mutation?
An extra base is added
What is a deletion mutation?
When a base is removed
What are the consequences of insertions and deletions?
Frameshift mutations - all amino acids from this point are effected
What are the 4 main types of chromosomal mutations?
Inversion, deletion, duplication and translocation
What are the building blocks of protein?
Amino acids
What is a splice site mutation?
When introns are failed to be removed from the primary mRNA transcript
