Question

In 1989, John et al. (Am. J. Hum. Genet. 45:905-909) reported a novel mutation in the phenylalanine hydroxylase gene (PAH) discovered in 9 French Canadian patients. The mutation was an A to G transition within the first codon of the protein coding sequence of the gene. What is the correct name for this allele according to human gene nomenclature rules?

A. MET1VAL

B. MET115VAL

C. A115G

D. G115A

E. VAL1MET

Answer 1

Whenever we write about mutation at a specific amino acid or specific nucleotide then we write the wild type amino acid or nucleotide at the first position followed by the position of the nucleotide then at the last the mutated nucleotide.

We don't use three-letter code of amino acids to show mutation, we use only a single letter code for the amino acid.

So, option A, B and E are wrong.

Given that A to G transition takes place in the PAH gene. It means that A is mutated to G.

So correct answer is option C - C. A115G

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