神经素1基因非同义单核苷酸多态性对精神障碍的计算机有害预测

Ashraf Hendam, A. Al-Sadek, H. Hefny
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引用次数: 3

摘要

Neurexin1 (NRXN1)基因在突触的形成、可塑性和成熟中起重要作用。研究报告了精神障碍患者NRXN1的非同义snp。目前的工作是将计算工具应用于精神障碍患者的编码NRXN1 snp。这项工作的目的是识别有害的snp,确定受损的蛋白质特征(功能,稳定性),并识别未来研究的潜在蛋白质区域。PROVEAN、SIFT和polyphen2预测了对蛋白质功能的影响,MUpro和I-Mutant2.0预测了蛋白质的稳定性。预测结果已确定2个snp是有害的所有工具。稳定性工具的有害结果分别为72%、78%,高于功能工具的25%、41%和47%。稳定性工具对有害预测的一致性百分比为56%,而功能工具的一致性百分比为12.5%。NRXN1的未来研究确定的区域是SP和LNS4。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
In silico deleterious prediction of nonsynonymous single nucleotide polymorphisms in Neurexin1 gene for mental disorders
Neurexin1 (NRXN1) gene is playing an important role in synaptic formation, plasticity and maturity. Studies have reported non-synonymous SNPs in NRXN1 in patient with mental disorders. The current work is applying computational tools on recoded NRXN1 SNPs in mental disorder patients. The aim of the work is to identify deleterious SNPs, determine damaged protein features (function, stability) and recognise potential protein regions for future research. The effect on protein function is predicted by PROVEAN, SIFT and PolyPhen-2 while protein stability is predicted by MUpro and I-Mutant2.0. Prediction results have identified 2 SNPs to be deleterious by all tools. Higher deleterious results in the stability tools with the percentages of 72%, 78% than the function tools with 25%, 41% and 47%. Agreement percentage of deleterious prediction between stability tools was 56% while 12.5% in the function tools. The identified regions of NRXN1 for future research are SP and LNS4.
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