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المؤلفP., Sneha
المؤلفD., Kumar Thirumal
المؤلفTanwar, Himani
المؤلفR., Siva
المؤلفC., George Priya Doss
المؤلفZayed, Hatem
تاريخ الإتاحة2017-05-10T05:34:34Z
تاريخ النشر2017-07
اسم المنشورJournal of Cellular Biochemistry
المعرّفhttp://dx.doi.org/10.1002/jcb.25920
الاقتباسP, S., D, K. T., Tanwar, H., R, S., C, G. P. D. and Zayed, H. (2017), Structural Analysis of G1691S Variant in the Human Filamin B Gene Responsible for Larsen Syndrome: A Comparative Computational Approach. Journal of Cellular Biochemistry, 118: 1900–1910
الرقم المعياري الدولي للكتاب0730-2312
معرّف المصادر الموحدhttp://hdl.handle.net/10576/5486
الملخصLarsen syndrome (LRS) is a rare genetic disease associated with variable manifestations including skeletal malformations, dislocations of the large joints, and notable changes in facial and limb features. Genetic variants in the Filamin B (FLNB) gene are associated with the development of LRS. We searched two literature databases (OMIM and PubMed) and three gene variant databases (HGMD, UniProt, & dbSNP) to capture all the possible variants associated with LRS phenotype, which may have an impact on the FLNB function. Our search yielded 77 variants that might impact the FLNB protein function in patients with LRS. We performed rigorous computational analysis such as conservational, biochemical, pathogenicity, and structural computational analyses to understand the deleterious effect of the G1691S variant. Further, the structural changes of the G1691S variant was compared with a null variant (G1691A) and the native protein through a molecular dynamic simulation study of 50 ns. We found that the variant G1691S was highly deleterious and destabilize the protein when compared to the native and variant G1691A. This might be due to the physicochemical changes in the variant G1691S when compared to the native and variant G1691A. The destabilization was further supported by transformation of bend to coil in variant G1691S whereas bend was retained in native and variant G1691A through molecular dynamics analysis. Our study shed light on the importance of computational methods to understand the molecular nature of genetic variants and structural insights on the function of the FLNB protein.
راعي المشروعQatar University grant QUUG-CAS-DHS-14/15-3.
اللغةen
الناشرWiley Periodicals, Inc
الموضوعFLNB
G1691S
IN SILICO PREDICTIONS
MOLECULAR DYNAMICS
LARSEN SYNDROME
العنوانStructural Analysis of G1691S Variant in the Human Filamin B Gene Responsible for Larsen Syndrome: A Comparative Computational Approach
النوعArticle
الصفحات1900-1910
رقم العدد7
رقم المجلد118
ESSN1097-4644
dc.accessType Abstract Only


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