Lecture 19 Activity Sheet | Impact of Mutations in Evolution and Disease | Theme V
As you work through lecture 19, fill out the following table. This may be useful for revision and to consolidate key concepts
Description: how is it distinct to other
mutations?
Affects single base
Point Mutations
Nucleotide is incorrect at a point, substituted
Base Substitution with a different nucleotide
Different amino acid being encoded (amino
Missense acid substitution)
Results in a premature stop codon instead of
original codon for amino acid
Nonsense
Same amino acid encoded (bc genetic code is
Silent redundant, several different codons can code
for the same amino acid)
Single Base Deletion/Insertion
Insertion/deletion results in small
increase/decrease in length of nucleotide
sequence
Frameshift
Occur at the level of a few bases up to parts of
Large Scale Mutations chromosomes
Insertion/deletion results in large
Deletion/Insertion increase/decrease in length of nucleotide
Impact
No change in overall number of bases in
sequence
Change in nucleotide results in a codon for a
different amino acid, could potentially change
activity of protein
Reduce/ shorten protein- truncated protein
Does not affect amino acid sequence
Affects reading frame
Entire amino acid sequence downstream of
this mutation will be different
Significant effect on whole remainder amino
acid sequence
Large deletions have significant effect on genes
encoded and potentially loss of entire gene/
Example Disease (if applicable)
Deamination of cytosine into uracil
Sickle cell anaemia- results in clumped
haemoglobin instead of globular, higher risks
of clotting, poor oxygen supply (base A ->T)
Dopa-responsive dystonia and Sepiapterin
reductase deficiency
Premature stop codon= enzyme is no longer
functional, reduces synthesis of both
dopamine and serotonin
Nerve signals not passing through nerve cell
Affects muscle contraction, stiffness, tremors,
and ataxia (loss of coordination/balance)
Duchenne (DMD) and Becker Muscular
Dystrophies (BMD) result from mutations
within the dystrophin gene (encodes for
dystrophin that connects cytoskeleton of
muscle fibres to the extracellular matrix)
Important for muscle function
DiGeorge syndrome- large scale deletion in
part of chromosome 22
 sequence protein Individuals have a delayed and significantly
Large insertions can result in new genes and impacted development, result in congenital
proteins encoded depending on where DNA is heart defects, reduced immune function, cleft
from palate (delayed and altered development of
mouth)

A segment of the chromosome is inverted Different complications

Inversion

Large sections of the chromosome being Multiple genes, give rise to complicated
duplicated during replication mutations
Duplication Spontaneous mutations occur in different
genes at different rates and ways – results in
divergent genes, important for evolution
Swap of DNA between two different Increases activity of a protein Burkitt’s Lymphoma- translocation between
chromosomes chromosome 8-14
Increases activity of c-myc (proto-oncogene:
Translocation gene that has potential of becoming an
oncogene, leads to cancer)
c-myc present on C8 translocate onto C14 and
vice-versa

Duchenne muscular dystrophy (DMD) is more severe than Becker Muscular Dystrophy (BMD):

- DMD is due to frame shift mutation (results in premature stop codons) and nonsense mutation, results in truncated (shorter) protein

- BMD also results from a deletion but due to in frame mutation- no. of bases that have been deleted are multiple of 3, results in deletion of an entire amino acid (not missense/
nonsense mutation), thus we don’t see the frameshift occurring, and less severe consequence on the protein
- The protein is still truncated but retains some of the function bc protein encoded at the downstream of the mutation is still very similar/ identical to the original wild type of protein.
- Different frameshift mutations can impact the protein in different ways