"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.
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".
Below are MeSH descriptors whose meaning is more specific than "Mutation, Missense".
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.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1998 | 0 | 2 | 2 |
| 1999 | 6 | 1 | 7 |
| 2000 | 3 | 8 | 11 |
| 2001 | 9 | 7 | 16 |
| 2002 | 4 | 12 | 16 |
| 2003 | 10 | 7 | 17 |
| 2004 | 6 | 7 | 13 |
| 2005 | 4 | 10 | 14 |
| 2006 | 13 | 7 | 20 |
| 2007 | 15 | 12 | 27 |
| 2008 | 11 | 15 | 26 |
| 2009 | 9 | 14 | 23 |
| 2010 | 8 | 9 | 17 |
| 2011 | 6 | 15 | 21 |
| 2012 | 6 | 16 | 22 |
| 2013 | 13 | 21 | 34 |
| 2014 | 13 | 18 | 31 |
| 2015 | 13 | 13 | 26 |
| 2016 | 15 | 25 | 40 |
| 2017 | 10 | 20 | 30 |
| 2018 | 11 | 21 | 32 |
| 2019 | 28 | 19 | 47 |
| 2020 | 18 | 25 | 43 |
| 2021 | 6 | 27 | 33 |
| 2022 | 0 | 10 | 10 |
| 2023 | 0 | 19 | 19 |
| 2024 | 4 | 14 | 18 |
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click here.
Below are the most recent publications written about "Mutation, Missense" by people in Profiles.
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Pathogenic SATB2 missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypes. J Med Genet. 2024 Oct 23; 61(11):1062-1067.
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p53R172H and p53R245W Hotspot Mutations Drive Distinct Transcriptomes in Mouse Mammary Tumors Through a Convergent Transcriptional Mediator. Cancer Res Commun. 2024 Aug 01; 4(8):1991-2007.
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Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder. Pediatr Neurol. 2024 Nov; 160:45-53.
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Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly. Genet Med. 2024 Nov; 26(11):101218.
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Novel TMPRSS6 variants and their impact on iron-refractory iron deficiency anaemia in pregnancy: A North Indian genotype phenotype study. Br J Haematol. 2024 Aug; 205(2):686-698.
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Rare Variant in MRC2 Associated With Familial Supraventricular Tachycardia and Wolff-Parkinson-White Syndrome. Circ Genom Precis Med. 2024 Aug; 17(4):e004614.
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Strength of selection in lung tumors correlates with clinical features better than tumor mutation burden. Sci Rep. 2024 06 03; 14(1):12732.
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Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities. Genet Med. 2024 Sep; 26(9):101174.
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Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles. Genome Med. 2024 05 30; 16(1):72.
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De novo heterozygous missense variants in CELSR1 as cause of fetal pleural effusions and progressive fetal hydrops. J Med Genet. 2024 May 21; 61(6):549-552.