Mutation, Missense

"Mutation, Missense" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)

Descriptor ID	D020125
MeSH Number(s)	G05.365.590.650
Concept/Terms	Mutation, Missense Mutation, Missense Missense Mutation Missense Mutations Mutations, Missense

Below are MeSH descriptors whose meaning is more general than "Mutation, Missense".

Biological Sciences [G]
Genetic Phenomena [G05]
Genetic Variation [G05.365]
Mutation [G05.365.590]
Mutation, Missense [G05.365.590.650]

Below are MeSH descriptors whose meaning is more specific than "Mutation, Missense".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Mutation, Missense" by people in this website by year, and whether "Mutation, Missense" was a major or minor topic of these publications.

Bar chart showing 77 publications over 25 distinct years, with a maximum of 9 publications in 2013

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
1999	0	1	1
2002	0	4	4
2003	0	3	3
2005	2	1	3
2006	0	2	2
2007	0	1	1
2008	0	3	3
2009	0	1	1
2010	3	2	5
2011	0	3	3
2012	1	5	6
2013	6	3	9
2014	3	3	6
2015	0	3	3
2016	3	2	5
2017	3	0	3
2018	1	1	2
2019	1	2	3
2020	2	2	4
2021	1	2	3
2022	1	0	1
2023	0	1	1
2024	1	0	1
2025	0	2	2
2026	1	1	2

Below are the most recent publications written about "Mutation, Missense" by people in Profiles.

Shirakawa KT, Parikh T, Machado LESF, Poimenidou G, Nguyen HT, Dell'Acqua ML, Kettenbach AN, Page R, Peti W. The clinical missense variant E282K in PPP3CA/calcineurin shifts substrate dephosphorylation by altering active site recruitment. Nat Commun. 2026 Feb 16; 17(1).

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Yao Q, Mahase V, Hou W, Cruz-Cosme R, Tang Q, Teng S. Computational and experimental identification of potential neutralizing peptides derived from human ACE2 against SARS-CoV-2 infection. J Virol. 2026 03 24; 100(3):e0146825.

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Anthony M, Xie Y, O'Neil JN, Teng S. Structural Analysis of Missense Mutations on the Stability of APOE3 and APOE4. Genes (Basel). 2025 Dec 16; 16(12).

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Li D, Mailand N, Ewing E, Hoffmann S, Caswell RC, Pang L, Eason J, Dou Y, Sullivan KE, Hakonarson H, Levine MA. Quantitative hypermorphic FAM111A alleles cause autosomal recessive Kenny-Caffey syndrome type 2 and osteocraniostenosis. JCI Insight. 2025 Mar 24; 10(6).

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Mahase V, Sobitan A, Yao Q, Shi X, Qin H, Kidane D, Tang Q, Teng S. Impact of Missense Mutations on Spike Protein Stability and Binding Affinity in the Omicron Variant. Viruses. 2024 07 17; 16(7).

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Rebello D, Wohler E, Erfani V, Li G, Aguilera AN, Santiago-Cornier A, Zhao S, Hwang SW, Steiner RD, Zhang TJ, Gurnett CA, Raggio C, Wu N, Sobreira N, Giampietro PF, Ciruna B. COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis. Hum Mol Genet. 2023 09 16; 32(19):2913-2928.

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Sobitan A, Edwards W, Jalal MS, Kolawole A, Ullah H, Duttaroy A, Li J, Teng S. Prediction of the Effects of Missense Mutations on Human Myeloperoxidase Protein Stability Using In Silico Saturation Mutagenesis. Genes (Basel). 2022 08 08; 13(8).

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Piserchio A, Long K, Lee K, Kumar EA, Abzalimov R, Dalby KN, Ghose R. Structural dynamics of the complex of calmodulin with a minimal functional construct of eukaryotic elongation factor 2 kinase and the role of Thr348 autophosphorylation. Protein Sci. 2021 06; 30(6):1221-1234.

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Teng S, Sobitan A, Rhoades R, Liu D, Tang Q. Systemic effects of missense mutations on SARS-CoV-2 spike glycoprotein stability and receptor-binding affinity. Brief Bioinform. 2021 03 22; 22(2):1239-1253.

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Bedoukian EC, Rentas S, Skraban C, Shao Q, Treat J, Laird DW, Sullivan KE. Palmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variant. Mol Genet Genomic Med. 2021 02; 9(2):e1574.

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