ஜர்னல் ஆஃப் அப்ளைடு பயோ இன்ஃபர்மேடிக்ஸ் & கம்ப்யூடேஷனல் பயாலஜி

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.

மறுப்பு: இந்த சுருக்கமானது செயற்கை நுண்ணறிவு கருவிகளைப் பயன்படுத்தி மொழிபெயர்க்கப்பட்டது மற்றும் இன்னும் மதிப்பாய்வு செய்யப்படவில்லை அல்லது சரிபார்க்கப்படவில்லை