Determination of Possible Mutation-prone Positions and Effects of SLITRK Protein in Silico

İslim A., Yıldız D., Aktaş E., Özdemir Özgentürk N.

3 th International Congress of Engineering and Natural Sciences Studies, Ankara, Turkey, 24 - 25 May 2023, pp.122

  • Publication Type: Conference Paper / Summary Text
  • City: Ankara
  • Country: Turkey
  • Page Numbers: pp.122
  • Yıldız Technical University Affiliated: Yes


Tourette's syndrome (TS) is a complex neuropsychiatric disorder characterized by involuntary movements and vocalizations called tics that occur at short intervals. There are different types of tics associated with Tourette Syndrome, which is a rare disease affecting 0.4% to 3.8% of children, with males being more frequently affected than females. Studies on individuals with Tourette Syndrome have shown that mutations in the SLITRK1 gene are of interest. Therefore, it is predicted that possible mutations in the SLITRK1 gene, where the SLITRK1 protein is expressed, may be associated with Tourette Syndrome. The SLITRK1 protein is a transmembrane protein and plays important roles in axon cells, neurons, and dendrites. Its most important function is enabling each neuron to communicate with its organs. The SLITRK1 protein is also thought to have a function in neurite outgrowth. Despite this, there is currently no comprehensive study to understand the structure of the SLITRK protein. In this study, we extensively analyzed the regions of the SLITRK1 protein that are likely to be susceptible to mutations and the structure of the SLITRK1 protein using bioinformatics tools such as disEMBL, PhDSNP, String etc. The analysis revealed that certain amino acid positions in the SLITRK1 protein differed significantly from other amino acid positions in terms of possible mutations. Mutations in these amino acids can affect the physical and chemical properties of this protein as well as affect insertion scores. Consequently, the results of the present study provide a different perspective for research on the SLITRK1 protein and its potential association with Tourette Syndrome