Role of wild type phenylalanine hydroxylase and the effect of mutation on protein structure and function

Bioinformatics is a widely used computational technique includes the sequence, structural alignment, database mining, gene finding and prediction of protein structure and function. Bioinformatics tool can be used to aid sequencing, analyse genome, observed genome mutation and also analyse and predict the structure of DNA, RNA and protein. The aims of this study were to compare and visualize the structure of wild type phenylalanine hydroxylase (PAH) with mutated PAH and to study the biological effect of mutated PAH structure to human. BLAST nucleotide
was used to find the healthy human DNA sequence of PAH. We compared the mutated and healthy phenylalanine hydroxylase sequences and we found there were several point mutations. Next, open reading frame (ORF) finder was used to find the translated mutated human PAH protein sequence. RasMol visualization software was used to visualize and compare the translated protein structure of healthy and mutated PAH. Based on the visualized structure, it shows the red loop of the healthy human PAH was longer than the mutated. This mutated human PAH structure will affect the protein instability and malfunctioning of the PAH protein structure. In addition, the mutated structure of human PAH protein will cause reduce body size, altered serum urine phenylalanine levels and lead to Phenylketonuria (PKU) disease.