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 70 publications over 23 distinct years, with a maximum of 10 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	1	1
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	7	3	10
2014	2	3	5
2015	0	2	2
2016	4	2	6
2017	3	0	3
2018	1	1	2
2019	1	2	3
2020	1	1	2
2021	1	2	3
2022	1	0	1
2023	0	1	1
2024	1	0	1

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

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 Jul 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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Chen MH, Raffield LM, Mousas A, Sakaue S, Huffman JE, Moscati A, Trivedi B, Jiang T, Akbari P, Vuckovic D, Bao EL, Zhong X, Manansala R, Laplante V, Chen M, Lo KS, Qian H, Lareau CA, Beaudoin M, Hunt KA, Akiyama M, Bartz TM, Ben-Shlomo Y, Beswick A, Bork-Jensen J, Bottinger EP, Brody JA, van Rooij FJA, Chitrala K, Cho K, Choquet H, Correa A, Danesh J, Di Angelantonio E, Dimou N, Ding J, Elliott P, Esko T, Evans MK, Floyd JS, Broer L, Grarup N, Guo MH, Greinacher A, Haessler J, Hansen T, Howson JMM, Huang QQ, Huang W, Jorgenson E, Kacprowski T, K?h?nen M, Kamatani Y, Kanai M, Karthikeyan S, Koskeridis F, Lange LA, Lehtim?ki T, Lerch MM, Linneberg A, Liu Y, Lyytik?inen LP, Manichaikul A, Martin HC, Matsuda K, Mohlke KL, Mononen N, Murakami Y, Nadkarni GN, Nauck M, Nikus K, Ouwehand WH, Pankratz N, Pedersen O, Preuss M, Psaty BM, Raitakari OT, Roberts DJ, Rich SS, Rodriguez BAT, Rosen JD, Rotter JI, Schubert P, Spracklen CN, Surendran P, Tang H, Tardif JC, Trembath RC, Ghanbari M, V?lker U, V?lzke H, Watkins NA, Zonderman AB, Wilson PWF, Li Y, Butterworth AS, Gauchat JF, Chiang CWK, Li B, Loos RJF, Astle WJ, Evangelou E, van Heel DA, Sankaran VG, Okada Y, Soranzo N, Johnson AD, Reiner AP, Auer PL, Lettre G. Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations. Cell. 2020 09 03; 182(5):1198-1213.e14.

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Stokes ES, Gilchrist ML, Calhoun DH. Prediction of improved therapeutics for fabry disease patients generated by mutagenesis of the a-galactosidase A active site, dimer interface, and glycosylation region. Protein Expr Purif. 2020 11; 175:105710.

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Dutil J, Teer JK, Golubeva V, Yoder S, Tong WL, Arroyo N, Karam R, Echenique M, Matta JL, Monteiro AN. Germline variants in cancer genes in high-risk non-BRCA patients from Puerto Rico. Sci Rep. 2019 11 28; 9(1):17769.

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Hernandez JA, Castro VL, Reyes-Nava N, Montes LP, Quintana AM. Mutations in the zebrafish hmgcs1 gene reveal a novel function for isoprenoids during red blood cell development. Blood Adv. 2019 04 23; 3(8):1244-1254.

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