Name the amino acid produced by sickle cell gene mutation b

Name the amino acid produced by sickle cell gene mutation: _____ (b) Explain how this amino acid substitution results in the production of a faulty beta-chain subunit:

Solution

Answer:

Sickle cell anaemia is a genetic disorder caused by a mutation in the haemoglobin beta gene located in chromosome 11.

(a) Valine (Val)

Sickle cell disease is associated with a mutaion of Glu to Val at position 6.

(b) The mutation glu to val is located at position 6 (beta chain) between E and F helices. This is a benign mutation with no apparent structural effects in the primary, secondary or tertiary structure of haemoglobin in normal oxygen concentration. A hydrophobic patch is present between the E anf F helices of haemoglobin in its deoxy state. The hydrophobic side chain of valine at position 6 of the beta chain is able to interact/associate with the hydrophobic patch between E and F helices, resulting in the formation of haemoglobin S aggregate and precipitate.