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Document Type |
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Article In Journal |
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Document Title |
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In silico analysis of Single Nucleotide Polymorphisms (SNPs) in human BRAF gene التحليل الجزيئي لنيوكليوتيدة وحيدة متعددة الأشكال في الجين الإنساني (براف) |
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Subject |
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Enviromental sciences |
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Document Language |
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English |
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Abstract |
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BRAF gene mutations are frequently seen in both inherited and somatic diseases. However, the harmful
mutations for BRAF gene have not been predicted in silico. Owing to the importance of BRAF gene in cell
division, differentiation and secretion processes, the functional analysis was carried out to explore the possible
association between genetic mutations and phenotypic variations. Genomic analysis of BRAF was initiated
with SIFT followed by PolyPhen and SNPs&GO servers to retrieve the 85 deleterious non-synonymous
SNPs (nsSNPs) from dbSNP. A total of 5 mutations i.e. c.406T>G (S136A), c.1446G>T (R462I), c.1556 A>G
(K499E), c.1860 T>A (V600E) and c.2352 C>T (P764L) that are found to exert benign effects on the BRAF protein
structure and function were chosen for further analysis. Protein structural analysis with these amino acid
variants was performed by using I-Mutant, FOLD-X, HOPE, NetSurfP, Swiss PDB viewer, Chimera and
NOMAD-Ref servers to check their solvent accessibility, molecular dynamics and energy minimization calculations.
Our in silico analysis suggested that S136A and P764L variants of BRAF could directly or indirectly
destabilize the amino acid interactions and hydrogen bond networks thus explain the functional deviations
of protein to some extent. Screening for BRAF, S136A and P764Lvariants may be useful for disease molecular
diagnosis and also to design the molecular inhibitors of BRAF pathways. |
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ISSN |
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0378-1119 |
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Journal Name |
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GENE |
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Volume |
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508 |
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Issue Number |
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2 |
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Publishing Year |
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1433 AH
2012 AD |
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Article Type |
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Article |
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Added Date |
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Sunday, November 11, 2012 |
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Researchers
| Muhammad Ramzan Manw Hussain | Hussain, Muhammad Ramzan Manw | Researcher | | ramzan.manwar@yahoo.com |
| Noor Ahmad Shaik | Shaik, Noor Ahmad | Researcher | | |
| Yousuf Al-Aama Jumana | Jumana, Yousuf Al-Aama | Researcher | | |
| Hani Z. Asfour | Asfour, Hani Z. | Researcher | | |
| Fatima Subhani Khan | Khan, Fatima Subhani | Researcher | | |
| Ahmad Masoodi Tariq | Tariq, Ahmad Masoodi | Researcher | | |
| Muhammad Akhtar Khan | Khan, Muhammad Akhtar | Researcher | | |
| Nazia Sultana Shaik | Shaik, Nazia Sultana | Researcher | | |
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Files
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34305.pdf
| pdf | In silico analysis of Single Nucleotide Polymorphisms (SNPs) in human BRAF gene |
|