ArticleBMC molecular and cell biology2020
In silico analysis of non-synonymous single nucleotide polymorphisms (nsSNPs) in the human GJA3 gene associated with congenital cataract.
Article in BMC molecular and cell biology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 58 citations in OpenAlex.
- The role of DNMT3B, GSK-3β and GJA3 in lens epithelial cell apoptosis and age-related cataract.BMC ophthalmology · 2026Article
- Potentially Deleterious Nonsynonymous Single Nucleotide Polymorphisms (nsSNPs) in the HumanHuman mutation · 2026Article
- In silico functional, structural, and pathogenicity assessment of single nucleotide polymorphisms in the human SOX9 gene.Scientific reports · 2025Article
- Computational and molecular insights on non-synonymous SNPs associated with human RAAS genes: Consequences for Hypertension vulnerability.Journal, genetic engineering & biotechnology · 2025Article
- Association analysis of Vascular Endothelial Growth Factor-A (VEGF-A) polymorphism in rheumatoid arthritis using computational approaches.Scientific reports · 2023Article
- In Silico Evaluation of the Potential Association of the Pathogenic Mutations of Alpha Synuclein Protein with Induction of Synucleinopathies.Diseases (Basel, Switzerland) · 2023Article
- Article
- Discovering Deleterious Single Nucleotide Polymorphisms of Human AKT1 Oncogene: An In Silico Study.Life (Basel, Switzerland) · 2023Article
- Non-synonymous SNPs variants of PRKCG and its association with oncogenes predispose to hepatocellular carcinoma.Cancer cell international · 2023Article
- In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis.Pharmaceuticals (Basel, Switzerland) · 2023Article
- Computational analysis of missense variant CYP4F2*3 (V433M) in association with human CYP4F2 dysfunction: a functional and structural impact.BMC molecular and cell biology · 2023Article
- An In Silico Functional Analysis of Non-Synonymous Single-Nucleotide Polymorphisms of BovinePathogens (Basel, Switzerland) · 2023Article
- An In silico Approach towards Finding the Cancer-Causing Mutations in Human MET Gene.International journal of genomics · 2023Article
- Insilico prediction and functional analysis of nonsynonymous SNPs in human CTLA4 gene.Scientific reports · 2022Article
- Determination of deleterious single-nucleotide polymorphisms of human LYZ C gene: an in silico study.Journal, genetic engineering & biotechnology · 2022Article
- Scrutinizing Deleterious Nonsynonymous SNPs and Their Effect on Human POLD1 Gene.Genetics research · 2022Article
- Novel Disease-Associated Missense Single-Nucleotide Polymorphisms Variants Predication by Algorithms Tools and Molecular Dynamics Simulation of Human TCIRG1 Gene Causing Congenital Neutropenia and Osteopetrosis.Frontiers in molecular biosciences · 2022Article
- In Silico Analysis Revealed Five Novel High-Risk Single-Nucleotide Polymorphisms (rs200384291, rs201163886, rs193141883, rs201139487, and rs201723157) inTheScientificWorldJournal · 2022Article
- Molecular diagnosis of autosomal dominant congenital cataract in two families from North India reveals a novel and a known variant inFrontiers in pediatrics · 2022Article
- Association of Cytotoxic T-Lymphocyte Antigen-4 Gene Polymorphism with Type 1 Diabetes Mellitus: In silico Analysis of Biological Features of CTLA-4 Protein on Ethiopian Population.Diabetes, metabolic syndrome and obesity : targets and therapy · 2022Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
backgroundGap junction protein alpha 3 (GJA3), an important pathogenic gene of congenital cataracts, encodes the transmembrane protein connexin46, which functions as an intercellular channel for voltage and chemical gating by forming dodecamers. This study systematically collected nsSNP information for the GJA3 gene from SNP databases and literature and screened for nsSNPs with high risks of pathogenicity.
resultsA total of 379 nsSNPs of GJA3 were identified. A total of 88 high-risk pathogenic GJA3 nsSNPs were found, including 31 published nsSNPs associated with congenital cataracts and 57 novel nsSNPs predicted by all eight online tools. The 88 high-risk pathogenic mutations, which are related to 67 amino acids in the wild-type sequences, cause a decrease in protein stability according to I-Mutant 3.0, MUpro and INPS. G2 and R33 were predicted to participate in post-translational modification and ligand binding by ModPred, RaptorX Binding and COACH. Additionally, high-risk mutations were likely to involve highly conserved sites, random coils, alpha helixes, and extracellular loops and were accompanied by changes in amino acid size, charge, hydrophobicity and spatial structure.
conclusionsEighty-eight high-risk pathogenic nsSNPs of GJA3 were screened out in the study, 57 of which were newly reported. The combination of multiple in silico tools is highly efficient for targeting pathogenic sites.
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