What is the type of detected mutation

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A patient affected with B-thalassaemia was tested for the known thalassemia mutations, however none of the known mutations was detected. Therefore, a blood sample was sent to the molecular laboratory to sequence beta-globin gene (HBB) and the result of sequencing was as follows:

Wild-type sample

B-Thalassaemic patient sample

1. What is the type of the detected mutation? (Mutation is indicated by an arrow), give the mutation type based on the change in the sequence.

2. The protein product of this mutation is R50P. How would you classify this mutation based on the structure of produced protien?

3. The outcome of this mutation is a less active DNA polymerase. How would you classify this mutation based on the function of produced protien?

Reference no: EM133373479

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