ArticleBMC genetics2020
Predicting the most deleterious missense nsSNPs of the protein isoforms of the human HLA-G gene and in silico evaluation of their structural and functional consequences.
Article in BMC genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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18 citing papers in PubMed, 36 citations in OpenAlex.
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- A systematic in-silico functional and structural analysis reveals deleterious missense nsSNPs in the humanMolecular biology research communications · 2025Article
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- Identification genetic variations in some heat shock protein genes of Tali goat breed and study their structural and functional effects on relevant proteins.Veterinary medicine and science · 2023Article
- Discovering Deleterious Single Nucleotide Polymorphisms of Human AKT1 Oncogene: An In Silico Study.Life (Basel, Switzerland) · 2023Article
- Identification of differentially expressed genes and SNPs linked to harvest body weight of genetically improved rohu carp,Frontiers in genetics · 2023Article
- Analyzing PKC Gamma (+ 19,506 A/G) polymorphism as a promising genetic marker for HCV-induced hepatocellular carcinoma.Biomarker research · 2022Article
- NELL-1 in Genome-Wide Association Studies across Human Diseases.The American journal of pathology · 2022Review
- Identification of mutations in porcineFrontiers in veterinary science · 2022Article
- HBD-2 variants and SARS-CoV-2: New insights into inter-individual susceptibility.Frontiers in immunology · 2022Article
- Computational Analysis of Deleterious SNPs inFrontiers in genetics · 2022Article
- A Novel Mutation of the KLK6 Gene in a Family With Knee Osteoarthritis.Frontiers in genetics · 2021Article
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe Human Leukocyte Antigen G (HLA-G) protein is an immune tolerogenic molecule with 7 isoforms. The change of expression level and some polymorphisms of the HLA-G gene are involved in various pathologies. Therefore, this study aimed to predict the most deleterious missense non-synonymous single nucleotide polymorphisms (nsSNPs) in HLA-G isoforms via in silico analyses and to examine structural and functional effects of the predicted nsSNPs on HLA-G isoforms.
resultsOut of 301 reported SNPs in dbSNP, 35 missense SNPs in isoform 1, 35 missense SNPs in isoform 5, 8 missense SNPs in all membrane-bound HLA-G isoforms and 8 missense SNPs in all soluble HLA-G isoforms were predicted as deleterious by all eight servers (SIFT, PROVEAN, PolyPhen-2, I-Mutant 3.0, SNPs&GO, PhD-SNP, SNAP2, and MUpro). The Structural and functional effects of the predicted nsSNPs on HLA-G isoforms were determined by MutPred2 and HOPE servers, respectively. Consurf analyses showed that the majority of the predicted nsSNPs occur in conserved sites. I-TASSER and Chimera were used for modeling of the predicted nsSNPs. rs182801644 and rs771111444 were related to creating functional patterns in 5'UTR. 5 SNPs in 3'UTR of the HLA-G gene were predicted to affect the miRNA target sites. Kaplan-Meier analysis showed the HLA-G deregulation can serve as a prognostic marker for some cancers.
conclusionsThe implementation of in silico SNP prioritization methods provides a great framework for the recognition of functional SNPs. The results obtained from the current study would be called laboratory investigations.
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