The Importance of ACTN3 R577X Polymorphism in Athletic Performance and Modeling of R577X Mutant Type and Wild Type ACTN3 Protein by Bioinformatics Analysis

Oflaz O., Altıntaş N.

Cumhuriyet Üniversitesi Sağlık Bilimleri Enstitüsü Dergisi / Journal of Cumhuriyet University Health Sciences Institute, vol.6, no.1, pp.17-22, 2021 (Peer-Reviewed Journal)


In studies conducted on the relationship between ACTN3 R577X polymorphism and athletic performance, it is known that athletic performance is polygenic, but the most sensitive relationship is provided by the ACTN3 gene. Considering the results, the conformational difference is much less (<0.05 A) between wild type and R577X. R577X has fewer amino acids (324 amino acids) than the wild type. It has been observed that the subunits of the R577X model do not have 4 long and 5 short alpha-helical curves. According to the analysis results of physico-chemistry properties, each model is very close to alipatich endex, but the R577X mutant type is higher than the wild type. Each model contains a large number of hydrophilic amino acids. R577 was found to be more hydrophilic than wild type. Each model has more likely amino acids versus negative amino acids. However, it considers the R577X mutant type more likely than the wild type. The purpose of this study is; explaining physico and chemistry properties with 3D homology between the wild type of ACTN gene and the R577X mutation region and contributed to future studies on this subject by making homology models. Uniprot, Swiss Model and Chimera were used as bioinformatics transition. Our results showed that there was no significant change in the molecular structure, in which case the function of the protein was not impaired. However, athletes with this mutation at the end of intense muscle performances are more susceptible to muscle damage. R577X mutant and wild-type protein of ACTN3 the physico-chemical properties of three-dimensional homology model was performed for the first time in Turkey