Molecular and in Silico Analysis of <i>MEFV</i> Variants in Familial Mediterranean Fever Patients in Southwest Iran

Familial Mediterranean Fever (FMF) is classified as an autoinflammatory genetic disease inherited by mutations in <em>MEFV</em>. These can affect the dysregulation of inflammatory processes human body and lead to fever pain chest abdomen. Many known missense <em>MEFV</em> are linked FMF disease. Mutations most cases located on short arm chromosome 16 impair function pyrin protein. In this research, we aimed examine entire exons for 13 (8 females 5 males) with diagnosis from Southwest Iran. Hence, amplified sequenced then, in-silico analysis detected changes was applied estimate probability pathogenicity identified variants. Finally, found five single nucleotide substitutions, including M694V (c.2080A>G), R202Q (c.605G>A), E447G (c.1430A>G), E148Q (c.442G>C), V726A (c.2177T>C), under-represented patients. The frequent our study were (38.46%) within exon 2 (30.7%) 10. Other accounted a further 23% alleles, E477G (7.6%), (7.6%). According <em>in-silico</em> analyses, variation pathogenicity, protein structure, allele frequency assessments, concluded that all these variants could be considered molecular profiling southwest