bioRxivBioinformaticsPreprint
In silico analysis of IDH3A gene revealed Novel mutations associated with Retinitis Pigmentosa
Thwayba A. Mahmoud, Abdelrahman Hamza AbdelmoneimiD, Naseem S. MurshediD, Zainab O. Mohammed, Dina T. Ahmed, Fatima A. Altyeb, Nuha A. Mahmoud, M. Mohammed, Fatima A. Arayah, Wafaa I. Mohammed, Omnia S. Abayazed, Amna S. Akasha, Mujahed I. MustafaiD, Mohamed Ahmed Salih HassaniD
Abstract
BackgroundRetinitis Pigmentosa (RP) refers to a group of inherited disorders characterized by the death of photoreceptor cells leading to blindness. The aim of this study is to identify the pathogenic SNPs in the IDH3A gene and their effect on the structure and function of the protein. Methodwe used different bioinformatics tools to predict the effect of each SNP on the structure and function of the protein. Result20 deleterious SNPs out of 178 were found to have a damaging effect on the protein structure and function. Conclusionthis is the first in silico analysis of IDH3A gene and 20 novel mutations were found using different bioinformatics tools, and they could be used as diagnostic markers for Retinitis Pigmentosa.
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