Question

Another mutation in the MYBPC3 gene that can cause HCM is a change from an arginine at position 403 of the protein to a glutamine. Assuming only a single nucleotide difference underlies this change, at what position within the original arginine codon did the point mutation most likely occur

Answer 1

The position within the original arginine codon where the point mutation most likely occurred was the second nucleotide. In this case, the mutation was CGA  >> CAA.

Mutations and codons

A mutation is any alteration in the nucleotide sequence of an organism.

A point mutation is a single base substitution that doesn't change the open reading frame of a given protein.

In this case, the CGA codon encodes for Arginine, whereas the CAA codon encodes for Glutamine, thereby the mutation likely occurred in the second base (CGA  >> CAA)

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