DC-SIGN receptor articulated by macrophages and dendritic cells is encoded by CD209 gene and plays a role to activate and proliferate the T-lymphocytes in response of virus attack. The dysfunctional activity of DC-SIGN receptor because of missense SNPs can lead to cause dengue haemorrhage fever, HIV-1 infection etc. Out of 11 transcripts of CD209, all missense SNPs of canonical transcript were retrieved from Ensembl database and evaluated by their deleteriousness by using Polyphen-2, PMut, SIFT, MutPred, PROVEAN and PhD-SNP together with stimulation of its complete 3D structure. 10 nsSNPs were chosen depending on both the significance value of nsSNP and their prediction among SNPs evaluating servers which are based on different algorithms. Moreover, the position and native role of 10 nsSNPs in wild 3D model has been described which assist to acknowledge their importance. This study urges the researcher's community to experimentally validate these SNPs and their association in causing the diseases like dengue fever, Tuberculosis etc.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7909662 | PMC |
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0247249 | PLOS |
Nucleosides Nucleotides Nucleic Acids
January 2025
Department of Molecular Biology and Genetics, Hitit University, Corum, Türkiye.
The norepinephrine transporter (NET) is a key regulator of noradrenergic neurotransmission and homeostasis, regulating the norepinephrine levels in the brain and peripheral tissues. hNET is a major target in neuropsychiatric disorders such as major depressive disorder, autonomic dysfunction, and attention deficit hyperactivity disorder (ADHD). The human norepinephrine transporter gene (, ) contains 504 missense single nucleotide polymorphisms (SNPs).
View Article and Find Full Text PDFSci Rep
January 2025
NMC Genetics India Pvt. Ltd., Gurugram, Haryana, 122001, India.
Rising cases of type 2 diabetes (T2D) in India, especially in metropolitan cities is an increasing concern. The individuals that were most affected are young professionals working in the corporate sector. However, the corporate sector has remained the least explored for T2D risk predisposition.
View Article and Find Full Text PDFNat Commun
January 2025
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA.
Computational methods for estimating missense variant impact suffer from inconsistent performance across genes, which poses a major challenge for their reliable use in clinical practice. While ensemble scores leverage multiple prediction methods to enhance consistency, the overrepresentation of certain genes in the training data can bias their outcomes. To address this critical limitation, we propose a gene-specific ensemble framework trained on reference computational annotations rather than on clinical or experimental data.
View Article and Find Full Text PDFVet Sci
December 2024
Guangdong Provincial Key Laboratory of Animal Molecular Design and Precise Breeding, College of Animal Science and Technology, Foshan University, Foshan 528225, China.
Orf (ORF) is an acute disease caused by the Orf virus (ORFV), and poses a certain threat to animal and human health. Live attenuated vaccines play an important role in the prevention and control of ORF. The effectiveness of the live attenuated Orf virus vaccine is influenced by several factors, including the genomic match between the vaccine strain and circulating epidemic strains.
View Article and Find Full Text PDFPLoS One
December 2024
Infection Biology Laboratory, Department of Biochemistry and Molecular Biology, University of Dhaka, Dhaka, Bangladesh.
CXCR4, a chemokine receptor known as Fusin or CD184, spans the outer membrane of various human cells, including leukocytes. This receptor is essential for HIV infection as well as for many vital cellular processes and is implicated to be associated with multiple pathologies, including cancers. This study employs various computational tools to investigate the molecular effects of disease-vulnerable germ-line missense and non-coding SNPs of the CXCR4 gene.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!