Determination of Single Nucleotide Polymorphisms (SNPs) in Human CAPN3 Gene by In Silico Analysis

Kayışlı G., Dilemek B., Aktaş E., Özdemir Özgentürk N.

3 th International Congress of Engineering and Natural Sciences, Ankara, Turkey, 24 - 25 May 2023, pp.417-426

  • Publication Type: Conference Paper / Full Text
  • City: Ankara
  • Country: Turkey
  • Page Numbers: pp.417-426
  • Yıldız Technical University Affiliated: Yes


ive inherited prevalence ranging from 0.001% to 0.009% cases. It affects approximately 30% of LGMD patients and is therefore considered the most common subtype. It is a rare and slowly progressive muscle disease caused by a mutation in the CAPN3 gene, which encodes the proteolytic enzyme Calpain 3, a skeletal muscle-specific member of the Calpain family. In the literature, the pathophysiological mechanisms involved in LGMDR1 are mostly unknown, and there is no effective treatment for this disease to date. Currently, there is no comprehensive study to understand the Calpain 3 protein. In this study, more than 7 bioinformatics tools such as Expasy and HOPE were used to investigate the functional and structural states of proteins caused by nsSNPs in the coding region of the human CAPN3 gene. The results have been extensively studied with rational and semi-rational design approaches. All possible SNPs of the gene, and the positions of the amino acids that make up the Calpain 3 protein produced by this gene, were determined, as well as the effects of these positions. Some amino acid positions have been highlighted as playing an active role in the stability of the protein structure, the biological activity of the Calpain 3 protein, the preservation of the Calpain 3 protein structure, and the interaction of the Calpain 3 protein with other proteins. Also, these amino asit positions can change the physico-chemical properties of the Calpain 3 protein. These results are supposed to be an important resource for studies on this protein and gene and will bring a different perspective to the treatment studies designed for the disease