Akademik Veri Yönetim Sistemi
Cumhuriyet Üniversitesi Sağlık Bilimleri Enstitüsü Dergisi / Journal of Cumhuriyet University Health Sciences Institute, cilt.6, sa.1, ss.17-22, 2021 (Hakemli Dergi)
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