Abstract
This study aims to analyze in-silico the most frequent variants of PTEN in a Saudi Arabian cohort with suspected Mendelian disease. PTEN mutation variants data of Saudi cohort extracted from the Saudi Human Genome Project (SHGP) database. Individual samples were sequenced for the PTEN gene. In-silico analysis using the various bioinformatic tools were carried out for pathogenicity and functional predication. the analysis showed that around 5% of mutations had a frequency of more than 40% of homozygous alleles, based on the elevated rate of consanguinity in Saudi Arabia. Interestingly, eight variants were found at > 1% of the analyzed cohort and were considered single nucleotide variations (SNV). Compared with other geographical populations, the rs1799734 and rs701848 PTEN variants were found to have increased by around 30% in allele frequencies. Variation found in PTEN allele frequencies could be representing a common Arab-enriched or Arab -specific common variants. Optimistically, this work may contribute to better preventive medicine, timely diagnoses, and an improved understanding of the history of PTEN-related disorders.