In silico analysis ofIDH3Agene revealed Novel mutations associated with Retinitis Pigmentosa-Reference-Cited by-同舟云学术

In silico analysis ofIDH3Agene revealed Novel mutations associated with Retinitis Pigmentosa

Published:2019-02-18 Issue: Volume: Page:
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Author:

Mahmoud Thwayba A.,Abdelmoneim Abdelrahman H.^ORCID,Murshed Naseem S.,Mohammed Zainab O.,Ahmed Dina T.,Altyeb Fatima A.,Mahmoud Nuha A.,Mohammed Mayada A.,Arayah Fatima A.,Mohammed Wafaa I.,Abayazed Omnia S.,Akasha Amna S.,Mustafa Mujahed I.,Hassan Mohamed A.

Abstract

AbstractBackgroundRetinitis 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.

Publisher

Cold Spring Harbor Laboratory

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