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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… 
National Institutes of Health

Related topics

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4 relations
Amino Acid SubstitutionPoint Mutationaspects of radiation effectsphysiological aspects

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2007
Highly Cited
2007
Genotypes of vitamin K epoxide reductase, gamma-glutamyl carboxylase, and cytochrome P450 2C9 as determinants of daily warfarin dose in Japanese patients.
Highly Cited
1998
Highly Cited
1998
Human Prop‐1: cloning, mapping, genomic structure
Highly Cited
1996
Highly Cited
1996
FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.
Fibroblast growth factor receptor 2 (FGFR2) mutations have been associated with the craniosynostotic conditions Crouzon, Jackson… 
Highly Cited
1993
Highly Cited
1993
Nucleotide sequence analysis of the precore region in patients with fulminant hepatitis B in the United States.
Highly Cited
1993
Highly Cited
1993
Precore mutations and core clustering mutations in chronic hepatitis B virus infection.
Highly Cited
1991
Highly Cited
1991
Naturally occurring missense mutation in the polymerase gene terminating hepatitis B virus replication
A hepatitis B virus (HBV) genome was cloned from human liver. Numerous mutations in all viral genes define this HBV DNA as a… 
Highly Cited
1991
Highly Cited
1991
Diversification of the rice Waxy gene by insertion of mobile DNA elements into introns.
The waxy (wx) gene of Oryza glaberrima was cloned, and its nucleotide sequence was determined. A waxy mutant of O. glaberrima… 
Highly Cited
1988
Highly Cited
1988
Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides.
Hemophilia A is an X-linked disease of coagulation caused by deficiency of factor VIII. Using cloned cDNA and synthetic… 
Review
1985
Review
1985
Primary structure of the hip gene of Escherichia coli and of its product, the beta subunit of integration host factor.
Highly Cited
1977
Highly Cited
1977
Cro regulatory protein specified by bacteriophage lambda. Structure, DNA-binding, and repression of RNA synthesis.
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