ArticlePloS one2016
In-Silico Computing of the Most Deleterious nsSNPs in HBA1 Gene.
Article in PloS one, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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21 citing papers in PubMed, 62 citations in OpenAlex.
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- Identification and In-Silico study of non-synonymous functional SNPs in the human SCN9A gene.PloS one · 2024Article
- RNA sequencing suggests that non-coding RNAs play a role in the development of acquired haemophilia.Journal of cellular and molecular medicine · 2023Article
- In-silico assessment of high-risk non-synonymous SNPs in ADAMTS3 gene associated with Hennekam syndrome and their impact on protein stability and function.BMC bioinformatics · 2023Article
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- Structural variants in the Chinese population and their impact on phenotypes, diseases and population adaptation.Nature communications · 2021Article
- Pathogenic nsSNPs that increase the risks of cancers among the Orang Asli and Malays.Scientific reports · 2021Article
- Congenital dyserythropoietic anemia and drug-induced liver injury present as bland cholestasis: A case report.Experimental and therapeutic medicine · 2021Article
- In silico screening and analysis of nonsynonymous SNPs in human CYP1A2 to assess possible associations with pathogenicity and cancer susceptibility.Scientific reports · 2021Article
- Predicting the Most Deleterious Missense Nonsynonymous Single-Nucleotide Polymorphisms of Hennekam Syndrome-Causing CCBE1 Gene, In Silico Analysis.TheScientificWorldJournal · 2021Article
- Centromere protein I (CENPI) is a candidate gene for X-linked steroid sensitive nephrotic syndrome.Journal of nephrology · 2020Article
- Co-inheritance of alpha globin gene deletion lowering serum iron level in female beta thalassemia patients.Molecular biology reports · 2020Article
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- In silico approach to the analysis of SNPs in the human APAF1 gene.Turkish journal of biology = Turk biyoloji dergisi · 2019Article
- Computational Analysis of Protein Structure Changes as a Result of Nondeletion Insertion Mutations in HumanBioMed research international · 2019Article
- Article
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2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundα-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.
methodUsing 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 DISCUSSION: A total of 389 SNPs in HBA1 were retrieved from dbSNP database, which includes: 201 non-coding synonymous (nsSNPs), 43 human active SNPs, 16 intronic SNPs, 11 mRNA 3' UTR SNPs, 9 coding synonymous SNPs, 9 5' UTR SNPs and other types. Structural homology-based method (PolyPhen) and sequence homology-based tool (SIFT), SNPs&Go, PROVEAN and PANTHER revealed that 2.4% of the nsSNPs are pathogenic.
conclusionsA total of 5 nsSNPs (G60V, K17M, K17T, L92F and W15R) were predicted to be responsible for the structural and functional modifications of HBA1 protein. It is evident from the deep comprehensive in-silico analysis that, two nsSNPs such as G60V and W15R in HBA1 are highly deleterious. These "2 pathogenic nsSNPs" can be considered for wet-lab confirmatory analysis.
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