Computational investigation of pathogenic nsSNPs in CEP63 protein

Gene
Ambuj Kumar, Rituraj Purohit

Abstract

Centrosomes are central regulators of mitosis that are often amplified in cancer cells. Centrosomal protein of 63kDa (CEP63) is a centrosomal protein that has an effective role in mitotic spindle assembly and cell cycle regulation. Genetic alterations in CEP63 coding gene has been widely studied for inducing aneuploidy and solid tumors in humans. The nonsynonymous single nucleotide polymorphisms (nsSNPs) are a genetic variant resulting in amino acid substitution and are reported in a wide range of human diseases. Here we report one new SNP (rs112926188) in a CEP63 coding region that can potentially disrupt the structure and basic functionality of a CEP63 protein. We used extensive functional and structural level analyses of an available SNP in a CEP63 coding gene. Furthermore the disease-association analysis was carried out to examine the possible pathogenic variant among the available dataset. To understand atomic arrangement in 3D space, native and pathogenic mutant structures were modeled. Molecular dynamics simulations were performed to understand structural consequences of prioritized deleterious mutation. Our analysis showed that rs112926188 allele substituting proline at the 61st residue position (L61P) produced more fle...Continue Reading

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Citations

Mar 5, 2013·Protoplasma·Ambuj KumarRituraj Purohit
Feb 16, 2013·Cell Biochemistry and Biophysics·Ambuj KumarRituraj Purohit
Mar 16, 2013·Cell Biochemistry and Biophysics· Balu KRituraj Purohit
Apr 9, 2013·Cell Biochemistry and Biophysics·Ambuj KumarRituraj Purohit
Jun 7, 2013·Interdisciplinary Sciences, Computational Life Sciences·Ambuj KumarRituraj Purohit
Apr 12, 2014·PLoS Computational Biology·Ambuj Kumar, Rituraj Purohit
Jul 16, 2013·Cell Biochemistry and Biophysics·Ambuj KumarRituraj Purohit
Jan 10, 2014·Interdisciplinary Sciences, Computational Life Sciences·Ambuj KumarRituraj Purohit
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Sep 25, 2015·Human Genetics·Elisabet EinarsdottirHans Matsson
Nov 13, 2014·Cell Biochemistry and Biophysics·Akin Yilmaz
Apr 21, 2016·Cell Biochemistry and Biophysics·Chandrasekhar GopalakrishnanRituraj Purohit
Jul 23, 2013·Journal of Molecular Biology·Shannon SteflEmil Alexov
May 4, 2016·Interdisciplinary Sciences, Computational Life Sciences·D Meshach Paul, R Rajasekaran
Feb 13, 2019·Journal of Cellular Biochemistry·Garima Tanwar, Rituraj Purohit
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Feb 7, 2013·Journal of Biomolecular Structure & Dynamics·Vidya Rajendran, Rao Sethumadhavan
Mar 27, 2013·Journal of Biomolecular Structure & Dynamics·Ambuj KumarRituraj Purohit

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