In silico prediction of functional loss of cst3 gene in hereditary cerebral amyloid angiopathy

  • Piyush Choudhary Industrial Biotechnology Division, School of Bio Sciences and Technology, Vellore Institute of Technology, Vellore 632014, Tamil Nadu
  • Juhee Singh Industrial Biotechnology Division, School of Bio Sciences and Technology, Vellore Institute of Technology, Vellore 632014, Tamil Nadu
  • V. Karthick Industrial Biotechnology Division, School of Bio Sciences and Technology, Vellore Institute of Technology, Vellore 632014, Tamil Nadu
  • V. Shanthi Industrial Biotechnology Division, School of Bio Sciences and Technology, Vellore Institute of Technology, Vellore 632014, Tamil Nadu
  • R. Rajasekaran Bioinformatics Division, School of Bio Sciences and Technology, Vellore Institute of Technology, Vellore 632014, Tamil Nadu
  • Karuppasamy Ramanathan Industrial Biotechnology Division, School of Bio Sciences and Technology, Vellore Institute of Technology, Vellore 632014, Tamil Nadu
Keywords: Cerebral amyloid angiopathy, CST3 gene, Genomi tool, Hereditary, In silico, Missense mutation

Abstract

The computational identification of missense mutation in CST3 (CYSTATIN 3 or CYSTATIN C) gene has been done in the present study. The missense mutations in the CST3 gene will leads to hereditary cerebral amyloid angiopathy  The initiation of the analysis was done with SIFT followed by POLYPHEN-2 and I-Mutant 2.0 using 24 variants of CST3 gene of Homo sapiens which were derived from dbSNP. The analysis showed that 5 variants (Y60C, C123Y, L19P, Y88C, L94Q) were found to be less stable and damaging by SIFT, POLYPHEN-2 and I-MUTANT2.0. Furthermore the outputs of SNP & GO are collaborated with PHD-SNP (Predictor of Human Deleterious-Single Nucleotide Polymorphism) and PANTHER to predict 5 variants (Y60C, Y88C, C123Y, L19P, and L94Q) having clinical impact in causing the disease.  These findings will be certainly helpful for the present medical practitioners for the treatment of cerebral amyloid angiopathy.

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Author Biography

Karuppasamy Ramanathan, Industrial Biotechnology Division, School of Bio Sciences and Technology, Vellore Institute of Technology, Vellore 632014, Tamil Nadu
Associate Professor

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Published
2013-11-26
How to Cite
Choudhary, P., J. Singh, V. Karthick, V. Shanthi, R. Rajasekaran, and K. Ramanathan. “In Silico Prediction of Functional Loss of Cst3 Gene in Hereditary Cerebral Amyloid Angiopathy”. Bangladesh Journal of Pharmacology, Vol. 8, no. 4, Nov. 2013, pp. 390-4, doi:10.3329/bjp.v8i4.16524.
Section
Research Articles