Overview
A mutation is a change in the nucleotide sequence of an organism's genetic material, ranging from single-base substitutions to insertions, deletions and larger rearrangements. Mutations arise from replication errors, chemical damage or other mechanisms, and their consequences depend on where they occur and how they alter gene products; they may be neutral, deleterious or, occasionally, advantageous. In viruses such as SARS-CoV-2, mutation in the genome, including the spike glycoprotein-coding region, drives molecular evolution and the emergence of variants, and computational approaches have been used to predict possible mutations and to compare viral lineages. In human genetics, specific mutations underlie defined disorders and clinical phenotypes: examples include factor V Leiden and plasminogen-activator-inhibitor variants associated with retinal vascular occlusion, a calcium-channel mutation linked to hypokalemic periodic paralysis, PRKAR1A mutation in Carney complex, LAMB3 mutation causing junctional epidermolysis bullosa, RPS19 mutation in Diamond-Blackfan anemia, and SMO mutation in a melanoma case. Mutations are also studied in developmental and evolutionary contexts, including models of speciation. Understanding mutation is therefore fundamental across virology, medical genetics and evolutionary biology, informing how pathogens adapt, how inherited and somatic diseases originate, and how genetic variation shapes biological diversity.
Research published in this journal
12 peer-reviewed articles, ranked by relevance. Each links to its DOI.
An Algorithm to Predict the Possible SARS-CoV-2 Mutations
Melanoma of the Breast with Smoothened (SMO) Mutation: Case Report and review of the Literature
Molecular Evolutionary Characteristics of the 2019 Novel Coronavirus (SARS-CoV-2) Contracted by Tunisian Citizens : Comparison and Relationship to Other Human and Animal Coronaviruses Based on Spike Glycoprotein-Coding Gene Sequences Analysis
Skeletal Muscle Calcium Channel Mutation R528G: Enhanced Channel Inactivation and Omega-Current at Hyperpolarization Contribute to Hypokalemic Periodic Paralysis.
Recurrent branch retinal arterial occlusions associated with plasminogen activator inhibitor-1 mutation
A New Gene Mutation of PRKAR1A was found in a Carney Complex Case
A Trio Study Showing Novel Gene Mutation In LAMB3 Causing Junctional Epidermolysis Bullosa (Intermediate/ Severe)
The Novel Coronavirus 2019 (COVID-19): A Narrative Review
Prolonged survival of Diamond-Blackfan anemia and RPS19 mutation: an observation in Togo
SARS-CoV-2 affected cells Pathogeny and Therapy
Ontogenes in Drosophila Melanogaster and a Model of Speciation
How this research is being cited
The 12 articles above have been cited 11 times in the scholarly literature. Citation data via OpenAlex and Crossref, updated Jun 2026.
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S. Sanjay et al. · 2023 · Medical hypothesis, discovery & innovation in optometry
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2023 · Applied Mathematics and Nonlinear Sciences
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2022 · Applied Mathematics and Nonlinear Sciences
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S. Sanjay et al. · 2022 · Medical hypothesis, discovery & innovation in optometry
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2022 · Medical Hypothesis Discovery & Innovation in Optometry
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2020 · Jurnal Ilmu Administrasi Media Pengembangan Ilmu dan Praktek Administrasi
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2020 · Jurnal Ilmu Administrasi: Media Pengembangan Ilmu dan Praktek Administrasi
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2018 · The Journal of General Physiology
A sample of recent works citing this journal's research on Mutation, linking to each citing work.