Mutations & Repair

Question 1

Silent mutation

Answer 1

Does not change the amino acid. New codon —> same AA—> no protein effect

Question 2

Missense mutation

Answer 2

Changes in amino acid in the protein. Has no effect on function or vastly different function.
New codon —> new AA —> variable on if protein changes

Question 3

Nonsense mutation

Answer 3

Codon changes into a stop codon, causing premature chain termination. Protein either degraded or formed as a truncated version
New codon —> stop codon—> protein is nonfunctional

Question 4

Frameshift mutation

Answer 4

One or more nucleosides are deleted or interested into ORF. Causes a change in the codon sequence and an alteration in the amino acid sequence
1+ nucleotides are deleted or inserted —> nonfunctional

Question 5

Sickle Cell Anemia

Answer 5

Missense mutation of 6th codon in HBB gene.
Changes GAG to GTG so the glutamate that is negatively charged and hydrophilic for a Val that is hydrophobic. This causes the cell to aggregate and form rigid structures.

Question 6

DMD

Answer 6

Large in frame and out of frame deletions to the gene lead to partially or non-functioning dystrophin protein. OOF results in little or no expression of the dystrophin protein.

In frame deletions can result in expression of truncated forms that form Miller Becker muscular dystrophy