Triosephosphate isomerase (TIM) is an enzyme that functions in the conversion of

Question

Triosephosphate isomerase (TIM) is an enzyme that functions in the conversion of dihydroxyacetone phosphate to glyceraldchydes-3-phosphate during Glycolysis. A deficiency in triosephosphate isomerase results in a hemolytic anemia. The TIM deficiency is caused by a mutation that changes a phenylanine codon (TTC) to a lecuine codon (CTC), which results in a thermolabile TIM protein (the protein does not function at elevated temperatures). Fill in the blank with the appropriate terminology. The point mutation (above) in the DNA results in a _____ mutation in the protein. The changed amino acid in the mutant protein is likely to have affected the protein's _____ structure. What is the phenotype of this mutant?

Explanation / Answer

A) transition mutation

Causing conversion of a pyrimidine for a pyrimidine. Therefore conversion of C--> T

B) primary structure.

The primary structure of the protein is going to be affected first followed by changes in the secondary and tertiary structures.

C) the phenotype of the mutant is normal. Though , there are several disease related conditions that occur in an individual that affect their survival. None of these conditions could be called phenotypic as they do not physically occur as distinct and separate the individuals with haemolytic anemia from the other normal genotype individuals.

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