Mureed Hussain Author

Research Article Open Access

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

Author(s):

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 an... view more»

DOI: 10.37532/2329-9533.2020.9(5).181

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