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Missense Mutation

Known as: Substitution Mutation, Exon Non-Synonymous Mutation, Mutation, Missense 
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… Expand
National Institutes of Health

Related topics

Related topics

4 relations
Amino Acid SubstitutionPoint Mutationaspects of radiation effectsphysiological aspects

Papers overview

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Highly Cited
2013
Highly Cited
2013
Predicting functional effect of human missense mutations using PolyPhen-2.
PolyPhen-2 (Polymorphism Phenotyping v2), available as software and via a Web server, predicts the possible impact of amino acid… Expand
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Highly Cited
2005
Highly Cited
2005
Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis.
Polycythemia vera (PV), essential thrombocythemia (ET), and myeloid metaplasia with myelofibrosis (MMM) are clonal disorders… Expand
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Highly Cited
1999
Highly Cited
1999
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
Rett syndrome (RTT, MIM 312750) is a progressive neurodevelopmental disorder and one of the most common causes of mental… Expand
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Highly Cited
1999
Highly Cited
1999
Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.
BACKGROUND Inherited mutations cause approximately 35 percent of cases of dilated cardiomyopathy; however, few genes associated… Expand
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Highly Cited
1998
Highly Cited
1998
Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17
Thirteen families have been described with an autosomal dominantly inherited dementia named frontotemporal dementia and… Expand
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Highly Cited
1998
Highly Cited
1998
Defective LPS signaling in C3H/HeJ and C57BL/10ScCr mice: mutations in Tlr4 gene.
Mutations of the gene Lps selectively impede lipopolysaccharide (LPS) signal transduction in C3H/HeJ and C57BL/10ScCr mice… Expand
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Highly Cited
1995
Highly Cited
1995
Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene
WE report the cloning of a novel gene (E5-1) encoded on chromosome 1 which has substantial nucleotide and amino-acid sequence… Expand
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Highly Cited
1991
Highly Cited
1991
Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease
A LOCUS segregating with familial Alzheimer's disease (AD) has been mapped to chromosome 21 (ref. 1), close to the amyloid… Expand
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Highly Cited
1991
Highly Cited
1991
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
MARFAN syndrome is an inherited disorder of connective tissue manifested in the ocular, skeletal and cardiovascular systems. It… Expand
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Highly Cited
1990
Highly Cited
1990
A molecular basis for familial hypertrophic cardiomyopathy: A β cardiac myosin heavy chain gene missense mutation
A point mutation in exon 13 of the beta cardiac myosin heavy chain (MHC) gene is present in all individuals affected with… Expand
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