In-Silico Computing of the Most Deleterious nsSNPs in HBA1 Gene
نویسندگان
چکیده
منابع مشابه
In-Silico Computing of the Most Deleterious nsSNPs in HBA1 Gene
BACKGROUND α-Thalassemia (α-thal) is a genetic disorder caused by the substitution of single amino acid or large deletions in the HBA1 and/or HBA2 genes. METHOD Using modern bioinformatics tools as a systematic in-silico approach to predict the deleterious SNPs in the HBA1 gene and its significant pathogenic impact on the functions and structure of HBA1 protein was predicted. RESULTS AND DI...
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Objective: The major objective of the study was to carry out comparative bioinformatics analyses to identify different nsSNPs that were predicted to be deleterious or damaging to the structure and functions of CFTR protein causing cystic fibrosis. Methods: The CFTR gene variants (nsSNPs) and their related protein sequences from Homo sapiens were subjected to computational analyses using the fol...
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Background: About 10-20% of children suffering from acute lymphoblastic leukemia (ALL), experience a relapse, which is a major cause of their death. Purine nucleotide analogs are frequently prescribed to maintain the treatment of ALL. Cytosolic 5´-nucleotidase (NT5C2) catalyzes the 5´ dephosphorylation of purine analogs. Gain-of-function mutations in the NT5C2 gene result in resistance to the t...
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15 صفحه اولIn silico analysis of structural and functional consequences in p16INK4A by deleterious nsSNPs associated CDKN2A gene in malignant melanoma.
In this study, we identified the most deleterious nsSNP in CDKN2A gene through structural and functional properties of its protein (p16INK4A) and investigated its binding affinity with cdk6. Out of 118 SNPs, 14 are nsSNPs in the coding region and 17 SNPs were found in the untranslated region (UTR). FastSNP suggested that 7 SNPs in the 5' UTR might change the protein expression levels. Sixty-fou...
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ژورنال
عنوان ژورنال: PLOS ONE
سال: 2016
ISSN: 1932-6203
DOI: 10.1371/journal.pone.0147702