Abstract
Aim: The aim of this study is to identify high-risk, missense SNPs in the RCE1 gene and to predict the structural effects of amino acid change on the RCE1 protein product. Method: Missense mutations in the RCE1 gene were screened in the NCBI SNP database. Pathogenicity of 329 SNPs that were categorized as missense calculated by algorithms in SIFT, PROVEAN, and PANTHER cSNP online tools. Three SNPs that were determined as "deleterious" and "probably damaging" were evaluated by I-Mutant and HOPE to estimate their structural effects on the RCE1 protein. Results: Three high-risk missense SNPs (rs201456801, UniProt protein ids: Q9Y256, E9PI08, and E9PKA7) that identified with SIFT, PROVEAN, and PANTHER cSNP increase protein stability by the I-Mutant software results. According to the HOPE database, amino acid residue changes caused by three SNPs are more hydrophobic and bigger than wild-type residues. The wild-type residue is conserved in only Q9Y256. There is a possibility that T303M and T180M modifications will not damage the protein. Conclusion: According to the SIFT, PROVEAN, and PANTHER cSNP online tools, two of the three SNPs that are expected to be high-risk in the RCE1 gene, there is a possibility of not damaging the protein according to I-Mutant and HOPE. It can be considered, this study could be a good start in expanding the research from in silico to in vitro and in vivo and reaching "definitive" results from the "prediction" level.