応用生物情報学および計算生物学ジャーナル

Computer-Aided Probing of the Pathogenic SNPs of Spartin Protein Associated with Hereditary Spastic Paraplegia

Ammara Akhtar*, Sobia Nazir Ch and Mureed Hussain

Background: Hereditary Spastic Paraplegia (HSP) is a neurological disorder associated with causing progressive spasticity in the lower limb of humans. In this study, the computational analysis was limb of humans. In this study, the computational analysis was performed to screen out the pathogenic missense and splicing variants of Spartin. The mutations in this mitochondrial protein can subsequently lead to HSP. Method: To discover novel mutations of Spartin protein, the missense and variants were obtained from gnomAD (Genome Aggregation Database), and further subjected to CADD (Combined Annotation Dependent Depletion) analysis. To validate the results, it was compared with various in silico mutation analysis tools. To accomplish novelty in the recent work, the mutations were analyzed and compared with the web- based tool ClinVar for finding novel mutations. Results: After stringent analysis, 3 missense mutations and 4 spicing mutations were obtained which have not been previously reported in any kind of databases or scientific work, thus can be considered as novel.