Question

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3.

1. Consider the following normal sequence:

Gly-leu-arg-gln-cys-ile-phe

And the following mutant proteins. What is the nature of each mutation? Describe what happens in each case.

1. Gly-leu-arg-gln                     
2. Gly-leu-arg-arg-cys-ile-phe
3. Gly-phe-lys-thr-met-gln-ile

2. Epidermolytic hyperkeratosis is an autosomal dominant condition that produces scaly skin. It can be caused by a missense mutation that 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. The most common mutation in a population is a deletion of this gene’s 235^th nucleotide, which is a C. The normal GJB2 protein is made in the cytoplasm and then moves to the cell membrane. In patients with the most common mutant allele, the GJB2 protein remains in the cytoplasm and is quickly degraded. This mutation is likely classified as a:

1. Missense mutation
2. Nonsense mutation
3. Gain-of-function mutation
4. Loss-of-function mutation

Answer 1

Answer - 3

(a) In this question normal and many mutant sequence are given . Explanation is given blow__

(b) In this question two cases are made after the transition and transversion.

Explanation are given blow_

(c) In this mutation question missense mutation occurs because due to miss sense mutation nonpolar aamino acids change in polar amino acid. So because these mutation protein lose their membrane permeability. Hence protein does not move from the cytoplasm to cell membrene and remain in the cytoplasm and quickly degraded.