Characterization of Single Nucleotide Variants of Gene in Melanocytic Nevi and Melanoma.

In this study, we examined single nucleotide variants (SNVs) of the gene in malignant melanoma and melanocytic nevi. A total of 20 variants of SNVs were detected. Of these variants, five nonsynonymous mutations of were identified, including c.T152C, c.T401C, c.G547A, c.G768A, and c.G992A. Three prediction tools, MutationTaster2, Polymorphism Phenotyping version 2, and PROVEAN (Protein Variation Effect Analyzer), which predict possible impact of an amino acid substitution, suggested that the mutations could be deleterious. Nine SNVs occurred in 3' untranslated regions, whereas two were observed in 5' untranslated regions. In all cases, four intronic variants were identified. In addition, we identified nine 3' untranslated region SNVs in ; one of them (OPN3[NM_014322:c.∗83C>T]) is predicted to disrupt a conserved microRNA (has-miR-376c-3p) target site, located in position 86-93 of 3' untranslated region. Our findings suggest that there is a strong possibility that SNVs play a role in the pathogenesis of melanocytic tumors via prediction of functional phenotype.