PATHOGENETIC POTENTIAL OF THE MUTATIONS OF PAH GENE

Some associations were also observed in this study andone of them, including R243X mutation and V245V polymorphism. The mean quality value of surrounding nucleotides of these variants was higher than 50 which proved their accuracy. The R261Q mutation in exon 7 was observed in seven patients from 30 patient. Studies have shown that this mutation is most common in the Azerbaijani population. Being R261G (G-A) mutation we have found a substitution of guanine with adenine. The result of mutation was on protein level, and arginine amino acid was substituted with gluthamine amino acid.