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3.
- Consider the following normal sequence:
Gly-leu-arg-gln-cys-ile-phe
And the following mutant proteins. What is the nature of eachmutation? Describe what happens in each case.
- Gly-leu-arg-gln                    Â
- Gly-leu-arg-arg-cys-ile-phe
- Gly-phe-lys-thr-met-gln-ile
- Epidermolytic hyperkeratosis is an autosomal dominant conditionthat produces scaly skin. It can be caused by a missense mutationthat substitutes a histidine (his) amino acid with an arginine(arg). Write the mRNA codons that could account for this change,and indicate if it is a transition or transversion.
c. Individuals with mutations in the GJB2 gene are deaf. Themost common mutation in a population is a deletion of this gene’s235th nucleotide, which is a C. The normal GJB2 proteinis made in the cytoplasm and then moves to the cell membrane. Inpatients with the most common mutant allele, the GJB2 proteinremains in the cytoplasm and is quickly degraded. This mutation islikely classified as a:
- Missense mutation
- Nonsense mutation
- Gain-of-function mutation
- Loss-of-function mutation
