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Everything about Point mutation
Replacement, insertion, or deletion of a single DNA or RNA nucleotide
A point mutation is a genetic mutation where a single nucleotide base is changed, inserted or deleted from a DNA or RNA sequence of an organism's genome. Point mutations have a variety of effects on the downstream protein product—consequences that are moderately predictable based upon the specifics of the mutation. These consequences can range from no effect to deleterious effects, with regard to protein production, composition, and function. Wikipedia →
🧭 Start here: a 6-step reading path
- Read the overview: Point mutationA 5-minute orientation
- Skim a recent paper: Reshaping Echinocandin Antifungal Drugs To Circumvent Glucan Synthase Point‐Mutation‐Mediated ResistanceInfluential work since 2022
- Pick up a classic book: Generation of antigen binding site diversity in the murine Mhc class II A beta moleculeThe most-reprinted book on the subject
- Read the landmark paper: Sensitive detection of somatic point mutations in impure and heterogeneous cancer samplesCited 4,587 times
- Go sideways: Protein biosynthesisA closely related topic
- Go sideways: Missense mRNAA closely related topic
📖 Definitions
Noun A mutation that involves the replacement, addition or deletion of a small number of bases (especially just one) at a specific site within a gene.
🏆 Landmark papers (most cited)
Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples
Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes
Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)
A Point Mutation in a Herpesvirus Polymerase Determines Neuropathogenicity
Schema Theory for Genetic Programming with One-Point Crossover and Point Mutation
A new point mutation associated with mitochondrial encephalomyopathy
The Y-chromosome point mutation rate in humans
Somatic Point Mutation Calling in Low Cellularity Tumors
🆕 Influential since 2022
Reshaping Echinocandin Antifungal Drugs To Circumvent Glucan Synthase Point‐Mutation‐Mediated Resistance
Hotspots of human mutation point to clonal expansions in spermatogonia
A point mutation in HIV-1 integrase redirects proviral integration into centromeric repeats
Single-cell level point mutation analysis of circulating tumor cells through droplet microfluidics
The Human SCN9AR185H Point Mutation Induces Pain Hypersensitivity and Spontaneous Pain in Mice
📚 Books worth reading
- 📕Generation of antigen binding site diversity in the murine Mhc class II A beta moleculeStefen A. Boehme · 1990
Ranked by number of editions on Open Library, a rough measure of how lasting a book is.
🔗 Related topics
- Protein biosynthesis Protein biosynthesis or protein synthesis (also known as proteosynthesis) is a core biological process, occurring inside cells, balancing the loss of cellular…
- Missense mRNA Missense mRNA is a messenger RNA bearing one or more mutated codons that yield polypeptides with an amino acid sequence different from the wild-type or…
- Missense mutation In genetics, a missense mutation is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid. It is…
- Frameshift mutation A frameshift mutation (also called a framing error or a reading frame shift) is a genetic mutation caused by indels (insertions or deletions) of a number…
- Coding region The coding region of a gene, also known as the coding DNA sequence (CDS), is the portion of a gene's DNA or RNA that codes for a protein. Studying the…
- Silent mutation Silent mutations, also called synonymous or samesense mutations, are mutations in DNA that do not have an observable effect on the organism's phenotype…
- Nonsense mutation In genetics, a nonsense mutation is a point mutation in a sequence of DNA that results in a nonsense codon, or a premature stop codon in the transcribed…
- Glossary of cellular and molecular biology (M–Z) This glossary of cellular and molecular biology is a list of definitions of terms and concepts commonly used in the study of cell biology, molecular biology…