ArticleJournal of biomedicine & biotechnology2010
A comprehensive in silico analysis of the functional and structural impact of SNPs in the IGF1R gene.
Article in Journal of biomedicine & biotechnology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 50 citations in OpenAlex.
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- Evolutionary Pattern of Interferon Alpha Genes in Bovidae and Genetic Diversity of IFNAA in the Bovine Genome.Frontiers in immunology · 2020Article
- Prediction of Deleterious Non-synonymous SNPs of Human STK11 Gene by Combining Algorithms, Molecular Docking, and Molecular Dynamics Simulation.Scientific reports · 2019Article
- Maternal IGF1 and IGF1R polymorphisms and the risk of spontaneous preterm birth.Journal of clinical laboratory analysis · 2017Article
- Combined sequence and sequence-structure based methods for analyzing FGF23, CYP24A1 and VDR genes.Meta gene · 2016Article
- Insulin-like growth factor-1 signaling in renal cell carcinoma.BMC cancer · 2016Review
- Identification of Deleterious Mutations in Myostatin Gene of Rohu Carp (Labeo rohita) Using Modeling and Molecular Dynamic Simulation Approaches.BioMed research international · 2016Article
- Mutational analysis of the insulin-like growth factor 1 receptor tyrosine kinase domain in non-small cell lung cancer patients.Molecular and clinical oncology · 2015Article
- In silico analysis of consequences of non-synonymous SNPs of Slc11a2 gene in Indian bovines.Genomics data · 2015Article
- Analysis of consequences of non-synonymous SNP in feed conversion ratio associated TGF-β receptor type 3 gene in chicken.Meta gene · 2015Article
- Functional and Structural Consequences of Damaging Single Nucleotide Polymorphisms in Human Prostate Cancer Predisposition Gene RNASEL.BioMed research international · 2015Article
- Relevance of insulin-like growth factor 1 receptor gene expression as a prognostic factor in non-small-cell lung cancer.Journal of cancer research and clinical oncology · 2015Article
- Circulating IGF1 and IGF2 and SNP genotypes in men and pregnant and non-pregnant women.Endocrine connections · 2014Article
- First comprehensive in silico analysis of the functional and structural consequences of SNPs in human GalNAc-T1 gene.Computational and mathematical methods in medicine · 2014Article
- Performance of an adipokine pathway-based multilocus genetic risk score for prostate cancer risk prediction.PloS one · 2012Article
- Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Insulin-like growth factor 1 receptor (IGF1R) acts as a critical mediator of cell proliferation and survival. Many single nucleotide polymorphisms (SNPs) found in the IGF1R gene have been associated with various diseases, including both breast and prostate cancer. The genetics of these diseases could be better understood by knowing the functions of these SNPs. In this study, we performed a comprehensive analysis of the functional and structural impact of all known SNPs in this gene using publicly available computational prediction tools. Out of a total of 2412 SNPs in IGF1R retrieved from dbSNP, we found 32 nsSNPs, 58 sSNPs, 83 mRNA 3' UTR SNPs, and 2225 intronic SNPs. Among the nsSNPs, a total of six missense nsSNPs were found to be damaging by both a sequence homology-based tool (SIFT) and a structural homology-based method (PolyPhen), and one nonsense nsSNP was found. Further, we modeled mutant proteins and compared the total energy values with the native IGF1R protein, and showed that a mutation from arginine to cysteine at position 1216 (rs61740868) on the surface of the protein caused the greatest impact on stability. Also, the FASTSNP tool suggested that 31 sSNPs and 3 intronic SNPs might affect splicing regulation. Based on our investigation, we report potential candidate SNPs for future studies on IGF1R mutations.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.