Point Mutations Flashcards
What is a point mutation?
A mutation affecting single nucleotide change
What are the two ways a point mutation can be classified?
- Mutations reffering to what happens to base sequence
- Mutations reffering to what happens to amino acid formed
What is a Point Mutation - Deletion?
- A nucleotide is lost from DNA sequence
- Results in a frameshift
What is a frameshift?
When reading frame is moved (the section of 3 bases)
What is the effect of a Deletion Point Mutation?
- Codons not being read properly
- Because bases are read in triplets, and all subsequent bases would shift by one base
- Usually amino acid sequence will be enitirely different
Desrcibe seriousness of Deletion Point Mutation
- Very Serious mutations
- Because lots of amino acids are changed
- So, protein will have a different shape
- Will likely be non-functional
What is another name of Insertion Point Mutations?
Adition Point Mutation
What is an Addition Point Mutation?
- When a nucleotide is added to DNA sequence
What are the effects and seriousness of Insertion Point Mutation?
Same as Deletion
What is a Substitution Point Mutation?
Substitution mutations result in change of one base
What are effects of Substitution Point Mutation?
- No frameshift occurs
- Only 1 amino acid potentially changed
- So, protein may still be functional as before
What is a mis-sense mutation?
- Occurs when a change in base leads to different amino acids being coded for
- Polypeptide will have a single amino acid that is different
Mutation reffering to amino acid change
How serious is a mis-sense mutation?
- Not as serious as other mutations
- Only 1 amino acid changed
- Protein may still function as before
What is a nonsense mutation?
- Occurs when substitution of base leads to a premature stop-codon being coded for
- This leads to premature end to synthesis of polypeptide
FInal protein formed is refered to as truncated protein
Describe seriousness of Nonsense Mutation
- Successfull synthesis of final proetin is very unlikely
- Almost certainly not be able to function normally