FAQ

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… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1968-2018
0500100019682018

Related topics

Related topics

3 relations
Amino Acid SubstitutionPoint Mutationphysiological aspects

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
Missense Mutation
physiological aspects
Amino Acid Substitution
Point Mutation

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… (More)
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Highly Cited
2010
Highly Cited
2010
A method and server for predicting damaging missense mutations
Applications of rapidly advancing sequencing technologies exacerbate the need to interpret individual sequence variants… (More)
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Highly Cited
2005
Highly Cited
2005
Clinical and biological features associated with epidermal growth factor receptor gene mutations in lung cancers.
BACKGROUND Mutations in the tyrosine kinase (TK) domain of the epidermal growth factor receptor (EGFR) gene in lung cancers are… (More)
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Highly Cited
2004
Highly Cited
2004
Hereditary early-onset Parkinson's disease caused by mutations in PINK1.
Parkinson's disease (PD) is a neurodegenerative disorder characterized by degeneration of dopaminergic neurons in the substantia… (More)
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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… (More)
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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… (More)
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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… (More)
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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… (More)
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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… (More)
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Highly Cited
1990
Highly Cited
1990
A molecular basis for familial hypertrophic cardiomyopathy: a beta 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… (More)
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