How can an alteration in protein structure lead to a disease state? A mutation r

Question

How can an alteration in protein structure lead to a disease state? A mutation replaces a cysteine with a methionine in an antibody protein, which disrupts a critical ionic bond and results in immunodeficiency. A mutation replaces an isoleucine with an aspartic acid in a transcription factor protein, which blocks the normal folding of the protein and its function in the expression of certain genes. A valine is mutated to a leucine on a membrane channel protein, which disrupts a hydrogen bond and blocks transport of a nutrient into cells. A glutamic acid is mutated to a proline in the active site of an enzyme, which results in the loss of a critical disulfide bond needed for catalysis and blocks a step in metabolism.

Explanation / Answer

Answer :-

Q.24:option-'b'-a mutation that replace isoleucine with a aspartic acid in a transcription factor protein which blocks the normal folding of protein and it's function in the expression of certain genes.

Explanation :-because mutation in transcription factor coding gene fails in expression of genes which leads genetic disorder.

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