scholarly journals Prediction of Structural and Functional Effects of Single Nucleotide Polymorphisms in <i>NAT2</i>gene, a Computational Analysis

2019 ◽  
Vol 7 (4) ◽  
pp. 88
Author(s):  
Amna Elsadig Elsafi Abodlaa ◽  
Dalia Mursi ◽  
Mona Abdelrahman Mohamed Khaier ◽  
Mai Abdul RahmanMasri ◽  
Nazik Elmalaika Obaid Seid Ahmed Husain ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Computational Analysis ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide

scholarly journals Computational analysis of functional single nucleotide polymorphisms associated with SLC26A4 gene

PLoS ONE ◽  
2020 ◽  
Vol 15 (1) ◽  
pp. e0225368
Author(s):  
Mirza Jawad Ul Hasnain ◽  
Muhammad Shoaib ◽  
Salman Qadri ◽  
Bakhtawar Afzal ◽  
Tehreem Anwar ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Computational Analysis ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Slc26a4 Gene

scholarly journals Computational Analysis of Single Nucleotide Polymorphisms Associated with Altered Drug Responsiveness in Type 2 Diabetes

2016 ◽  
Vol 17 (7) ◽  
pp. 1008 ◽  
Author(s):  
Valerio Costa ◽  
Antonio Federico ◽  
Carla Pollastro ◽  
Carmela Ziviello ◽  
Simona Cataldi ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Single Nucleotide Polymorphisms ◽  
Computational Analysis ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Drug Responsiveness

Computational analysis unravels novel destructive single nucleotide polymorphisms in the non-synonymous region of human caveolin gene

Gene Reports ◽  
2017 ◽  
Vol 6 ◽  
pp. 142-157 ◽  
Author(s):  
Nitin Chitranshi ◽  
Yogita Dheer ◽  
Roshana Vander Wall ◽  
Veer Gupta ◽  
Mojdeh Abbasi ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Computational Analysis ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide

scholarly journals Computational Analysis of Functional Single Nucleotide Polymorphisms Associated with the CYP11B2 Gene

PLoS ONE ◽  
2014 ◽  
Vol 9 (8) ◽  
pp. e104311 ◽  
Author(s):  
Minyue Jia ◽  
Boyun Yang ◽  
Zhongyi Li ◽  
Huiling Shen ◽  
Xiaoxiao Song ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Computational Analysis ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide

scholarly journals Computational Analysis of Damaging Single-Nucleotide Polymorphisms and Their Structural and Functional Impact on the Insulin Receptor

2016 ◽  
Vol 2016 ◽  
pp. 1-11 ◽  
Author(s):  
Zabed Mahmud ◽  
Syeda Umme Fahmida Malik ◽  
Jahed Ahmed ◽  
Abul Kalam Azad
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Insulin Receptor ◽  
Computational Analysis ◽  
Single Amino Acid ◽  
Nucleotide Polymorphisms ◽  
Coding Region ◽  
Single Nucleotide ◽  
Complex Disorders ◽  
Functional Variants ◽  
And Function

Single-nucleotide polymorphisms (SNPs) associated with complex disorders can create, destroy, or modify protein coding sites. Single amino acid substitutions in the insulin receptor (INSR) are the most common forms of genetic variations that account for various diseases like Donohue syndrome or Leprechaunism, Rabson-Mendenhall syndrome, and type A insulin resistance. We analyzed the deleterious nonsynonymous SNPs (nsSNPs) in INSR gene based on different computational methods. Analysis of INSR was initiated with PROVEAN followed by PolyPhen and I-Mutant servers to investigate the effects of 57 nsSNPs retrieved from database of SNP (dbSNP). A total of 18 mutations that were found to exert damaging effects on the INSR protein structure and function were chosen for further analysis. Among these mutations, our computational analysis suggested that 13 nsSNPs decreased protein stability and might have resulted in loss of function. Therefore, the probability of their involvement in disease predisposition increases. In the lack of adequate prior reports on the possible deleterious effects of nsSNPs, we have systematically analyzed and characterized the functional variants in coding region that can alter the expression and function of INSR gene. In silico characterization of nsSNPs affecting INSR gene function can aid in better understanding of genetic differences in disease susceptibility.

Development of a simple method for the determination of single nucleotide polymorphisms

2010 ◽  
Vol 34 (8) ◽  
pp. S75-S75
Author(s):  
Weifeng Zhu ◽  
Zhuoqi Liu ◽  
Daya Luo ◽  
Xinyao Wu ◽  
Fusheng Wan
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Nucleotide Polymorphisms ◽  
Simple Method ◽  
Single Nucleotide
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