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 222 publications over 27 distinct years, with a maximum of 18 publications in 2011

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

Year	Major Topic	Minor Topic	Total
1998	2	3	5
1999	7	3	10
2000	5	2	7
2001	5	4	9
2002	6	4	10
2003	0	7	7
2004	4	4	8
2005	3	2	5
2006	4	3	7
2007	6	5	11
2008	4	4	8
2009	4	9	13
2010	5	2	7
2011	10	8	18
2012	7	8	15
2013	4	1	5
2014	8	1	9
2015	12	3	15
2016	7	1	8
2017	4	0	4
2018	4	2	6
2019	3	7	10
2020	2	6	8
2021	2	5	7
2022	0	1	1
2023	0	4	4
2024	2	3	5

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

Munir A, Khan IU, Rashid A, Anwar I, Shah S, Oreshkov S, Ullah M, Khan HA, Ullah U, Ahmad A, Ansar M, Rehman AU. A novel homozygous missense variant in POC1B causes cone dystrophy in a consanguineous Pakistani family. Ophthalmic Genet. 2025 02; 46(1):47-55.

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Rayinda T, McSweeney SM, Christou E, Ung CY, Fenton DA, McGrath JA, Dand N, Simpson MA, Tziotzios C. Gene-Environment Interaction Between CYP1B1 and Oral Contraception on Frontal Fibrosing Alopecia. JAMA Dermatol. 2024 07 01; 160(7):732-735.

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Moulton MJ, Atala K, Zheng Y, Dutta D, Grange DK, Lin WW, Wegner DJ, Wambach JA, Duker AL, Bober MB, Kratz L, Wise CA, Oxendine I, Khanshour A, Wangler MF, Yamamoto S, Cole FS, Rios J, Bellen HJ. Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities. Genet Med. 2024 09; 26(9):101174.

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Nanda A, Chang YH, Cheng HC, Lai IT, Al-Lafi A, McGrath JA, Hsu CK. Autosomal recessive plantar keratoderma with ragged periungual hyperkeratosis caused by a homozygous missense variant in?KRT16. Br J Dermatol. 2024 03 15; 190(4):588-590.

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Shepherdson JL, Hutchison K, Don DW, McGillivray G, Choi TI, Allan CA, Amor DJ, Banka S, Basel DG, Buch LD, Carere DA, Carroll R, Clayton-Smith J, Crawford A, Dun? M, Faivre L, Gilfillan CP, Gold NB, Gripp KW, Hobson E, Holtz AM, Innes AM, Isidor B, Jackson A, Katsonis P, Amel Riazat Kesh L, K?ry S, Lecoquierre F, Lockhart P, Maraval J, Matsumoto N, McCarrier J, McCarthy J, Miyake N, Moey LH, N?meth AH, ?stergaard E, Patel R, Pope K, Posey JE, Schnur RE, Shaw M, Stolerman E, Taylor JP, Wadman E, Wakeling E, White SM, Wong LC, Lupski JR, Lichtarge O, Corbett MA, Gecz J, Nicolet CM, Farnham PJ, Kim CH, Shinawi M. Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt. Am J Hum Genet. 2024 03 07; 111(3):487-508.

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Paredes DI, Bello NR, Capasso JE, Procopio R, Levin AV. Mutations in AGBL5 associated with Retinitis pigmentosa. Ophthalmic Genet. 2024 06; 45(3):275-280.

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Rios JJ, Li Y, Paria N, Bohlender RJ, Huff C, Rosenfeld JA, Liu P, Bi W, Haga K, Fukuda M, Vashisth S, Kaur K, Chahrour MH, Bober MB, Duker AL, Ladha FA, Hanchard NA, Atala K, Khanshour AM, Smith L, Wise CA, Delgado MR. RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation. Am J Hum Genet. 2023 12 07; 110(12):2103-2111.

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Lee KE, Pulido JS, da Palma MM, Procopio R, Hufnagel RB, Reynolds M. A Comprehensive Report of Intrinsically Disordered Regions in Inherited Retinal Diseases. Genes (Basel). 2023 08 08; 14(8).

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Rayinda T, McSweeney SM, Fassihi H, Fenton D, Liu L, Stefanato CM, Dand N, McGrath JA, Tziotzios C. A novel heterozygous missense variant in ribosomal protein L21 associated with familial hypotrichosis simplex. Clin Exp Dermatol. 2023 07 07; 48(7):840-843.

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Chen GX, Barajas-Mart?nez H, Ciconte G, Wu CI, Monasky MM, Xia H, Li B, Capra JA, Guo K, Zhang ZH, Chen X, Yang B, Jiang H, Tse G, Mak CM, Aizawa Y, Gollob MH, Antzelevitch C, Wilde AAM, Pappone C, Hu D. Clinical characteristics and electrophysiologic properties of SCN5A variants in fever-induced Brugada syndrome. EBioMedicine. 2023 Jan; 87:104388.

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