ArticlePloS one2015
Prediction of the damage-associated non-synonymous single nucleotide polymorphisms in the human MC1R gene.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- A meta-analysis of associations of LEPR Q223R and K109R polymorphisms with Type 2 diabetes risk.PloS one · 2018Pooled it
- Delving Into the Depths ofHuman mutation · 2026Article
- Prediction the functional impacts of highly deleterious non-synonymous variants ofMolecular biology research communications · 2025Article
- Mitochondrial DNA mutation pathogenicity score and neurocognitive performance in persons with HIV.Mitochondrion · 2024Article
- Molecular Evolution and Inheritance Pattern ofGenes · 2022Article
- Dynamic insights into the effects of nonsynonymous polymorphisms (nsSNPs) on loss of TREM2 function.Scientific reports · 2022Article
- Prediction of disease-associated nsSNPs by integrating multi-scale ResNet models with deep feature fusion.Briefings in bioinformatics · 2022Article
- Article
- Computational Insights into the Deleterious Impacts of Missense Variants onInternational journal of molecular sciences · 2021Article
- 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.BMC genetics · 2020Article
- Article
- Molecular andF1000Research · 2018Article
- New mtDNA Association Model, MutPred Variant Load, Suggests Individuals With Multiple Mildly Deleterious mtDNA Variants Are More Likely to Suffer From Atherosclerosis.Frontiers in genetics · 2018Article
- The next generation of metastatic melanoma: uncovering the genetic variants for anti-BRAF therapy response.Oncotarget · 2016Article
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Authors and funding
3 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The melanocortin 1 receptor (MC1R) is involved in the control of melanogenesis. Polymorphisms in this gene have been associated with variation in skin and hair color and with elevated risk for the development of melanoma. Here we used 11 computational tools based on different approaches to predict the damage-associated non-synonymous single nucleotide polymorphisms (nsSNPs) in the coding region of the human MC1R gene. Among the 92 nsSNPs arranged according to the predictions 62% were classified as damaging in more than five tools. The classification was significantly correlated with the scores of two consensus programs. Alleles associated with the red hair color (RHC) phenotype and with the risk of melanoma were examined. The R variants D84E, R142H, R151C, I155T, R160W and D294H were classified as damaging by the majority of the tools while the r variants V60L, V92M and R163Q have been predicted as neutral in most of the programs The combination of the prediction tools results in 14 nsSNPs indicated as the most damaging mutations in MC1R (L48P, R67W, H70Y, P72L, S83P, R151H, S172I, L206P, T242I, G255R, P256S, C273Y, C289R and R306H); C273Y showed to be highly damaging in SIFT, Polyphen-2, MutPred, PANTHER and PROVEAN scores. The computational analysis proved capable of identifying the potentially damaging nsSNPs in MC1R, which are candidates for further laboratory studies of the functional and pharmacological significance of the alterations in the receptor and the phenotypic outcomes.
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