Computational Analysis of nsSNPs of ADA Gene in Severe Combined Immunodeficiency Using Molecular Modeling and Dynamics Simulation
المؤلفون المشاركون
Mehdi Krami, AL
Rouba, Hassan
Zouhair, Elkarhat
Elkhattabi, Lamiae
Essadssi, Soukaina
Amalou, Ghita
Abdelghaffar, Houria
Barakat, Abdelhamid
المصدر
Journal of Immunology Research
العدد
المجلد 2019، العدد 2019 (31 ديسمبر/كانون الأول 2019)، ص ص. 1-14، 14ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2019-11-03
دولة النشر
مصر
عدد الصفحات
14
التخصصات الرئيسية
الملخص EN
Severe combined immunodeficiency (SCID) is the most severe form of primary immunodeficiency (PID), characterized by fatal opportunistic infections.
The ADA gene encodes adenosine deaminase, an enzyme that catalyzes the irreversible deamination of adenosine and deoxyadenosine in the catabolic pathway of purine.
Mutations of the ADA gene have been identified in patients with severe combined immunodeficiency.
In this study, we performed a bioinformatics analysis of the human ADA gene to identify potentially harmful nonsynonymous SNPs and their effect on protein structure and stability.
Using eleven prediction tools, we identified 15 nsSNPs (H15D, H15P, H17Q, H17Y, D19N, T26I, G140E, C153F, A183D, G216R, H258Y, C262Y, S291L, S291W, and K34OE) as harmful.
The results of ConSurf’s analysis revealed that all these nsSNPs are localised in the highly conserved positions and affect the structure of the native proteins.
In addition, our computational analysis showed that the H15D, G140E, G216R, and S291L mutations identified as being associated with severe combined immunodeficiency affect protein structure.
Similarly, the results of the analyses of Rmsd, Rmsf, and Rg showed that all these factors influence protein stability, flexibility, and compaction with different levels of impact.
This study is the first comprehensive computational analysis of nsSNPs of the ADA gene.
However, functional analyses are needed to elucidate the biological mechanisms of these polymorphisms in severe combined immunodeficiency.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Essadssi, Soukaina& Mehdi Krami, AL& Elkhattabi, Lamiae& Zouhair, Elkarhat& Amalou, Ghita& Abdelghaffar, Houria…[et al.]. 2019. Computational Analysis of nsSNPs of ADA Gene in Severe Combined Immunodeficiency Using Molecular Modeling and Dynamics Simulation. Journal of Immunology Research،Vol. 2019, no. 2019, pp.1-14.
https://search.emarefa.net/detail/BIM-1176393
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Essadssi, Soukaina…[et al.]. Computational Analysis of nsSNPs of ADA Gene in Severe Combined Immunodeficiency Using Molecular Modeling and Dynamics Simulation. Journal of Immunology Research No. 2019 (2019), pp.1-14.
https://search.emarefa.net/detail/BIM-1176393
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Essadssi, Soukaina& Mehdi Krami, AL& Elkhattabi, Lamiae& Zouhair, Elkarhat& Amalou, Ghita& Abdelghaffar, Houria…[et al.]. Computational Analysis of nsSNPs of ADA Gene in Severe Combined Immunodeficiency Using Molecular Modeling and Dynamics Simulation. Journal of Immunology Research. 2019. Vol. 2019, no. 2019, pp.1-14.
https://search.emarefa.net/detail/BIM-1176393
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1176393
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر