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Hindi Journal of Applied Bioinformatics & Computational BiologyISSN: 2329-9533
Ammara Akhtar Author
Subjects of specialization
Affiliation
Gel Electrophoresis , Bioinformatic Tools , Computational Drug Designing
Department of Life Sciences, University of Management and Technology, Lahore, Pakistan, 54770
Biography
Ammara Akhtar has done M.phill biotechnology from the School of Health sciences, University of Management and Technology (Pakistan). Ammara does research in bioinformatics and Biotechnology.
Publications
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»
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