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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

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Amino Acid SubstitutionPoint Mutationaspects of radiation effectsphysiological aspects

Papers overview

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2013
2013
Molecular analysis of SMN 1 , SMN 2 , NAIP , GTF 2 H 2 , and H 4 F 5 genes in 157 Chinese patients with spinal muscular atrophy ☆
Abbreviations: DHPLC, denaturing high-performance l general transcription factor IIH, polypeptide 2 gene;H4F5, h or 1000 bp; MLPA… 
2006
2006
PAX6 missense mutations associated in patients with optic nerve malformation.
PURPOSE PAX6 missense mutations are likely to cause a spectrum of ocular, neurological, and systemic developmental defects and… 
Review
2004
Review
2004
[Pathology and molecular pathogenesis of spondyloepiphyseal dysplasia tarda with progressive arthropathy caused by compound CCN6 heterogeneous gene mutations].
OBJECTIVE To characterize the clinical manifestations, features of roentgenography and MR imaging, and the pathology of articular… 
2003
2003
A phylogenetic approach to assessing the significance of missense mutations in disease genes
The identification of deleterious mutations within candidate genes is a crucial step in the elucidation of the genetic bases of… 
2003
2003
A Novel Mutation of the Growth Hormone Receptor Gene (GHR) in a Chinese Girl with Laron Syndrome
Laron syndrome, also known as growth hormone insensitivity syndrome (GHIS), is an autosomal recessive genetic disorder associated… 
1994
1994
Mouse microcytic anaemia caused by a defect in the gene encoding the globin enhancer-binding protein NF-E2
Nature 362, 768-770 (1992) WE previously reported that the globin enhancer-binding protein NF-E2 was defective in the mouse… 
1984
1984
On the nature of the mutations induced by the diolepoxide of benzo[a]pyrene in mammalian cells.
We have previously described the induction by r-7,t-8-dihydroxy-t-9,10-oxy-7,8,9,10-tetrahydrobenzo[a]pyrene (BPDE) of 8… 
Highly Cited
1976
Highly Cited
1976
Analysis of HeLa cell hypoxanthine phosphoribosyltransferase mutants and revertants by two-dimensional polyacrylamide gel electrophoresis: evidence for silent gene activation.
The spot corresponding to hypoxanthine phosphoribosyltransferase (HPRT; IMP:pyrophosphate phosphoribosyltransferase, EC 2.4.2.8… 
1974
1974
Misrepair mutagenesis in bacteriophage T4.
The T4 mutations px, y and 1206 inactivate an error-prone recombination-like repair system, reducing or abolishing mutagenesis by… 
1974
1974
Nature of mutations conferring resistance to 8-azaguanine in mouse cell lines.
Two stable mouse cell mutants A9 and RAG, which are resistant to 8-azaguanine and deficient in hypoxanthine-guanine…