Mutations effects

Alber, T. Mutational effects on protein stability. Annu. Rev. Biochem. 58 765-798, 1989. 

Wells, J.A. Additivity of mutational effects in proteins. Biochemistry 29 8509-8517, 1990. 

Lavoie, T. B., Drohan, W. N. and Smith-Gill, S. J. (1992), Experimental analysis by site-directed mutagenesis of somatic mutation effects on affinity and fine specificity in antibodies specific for lysozyme , f. Immunol., 148, 503-513. 

Ma, L, Zhao, H., Deng, X. W. Analysis of the mutational effects of the COP/DET/FUS loci on genome expression profiles reveals their overlapping yet not identical roles in regulating Arabidopsis seedling development. Development 2003, 330, 969-981. 

Selected entries from Methods in Enzymology [vol, page(s)] Aspartate transcarbamylase [assembly effects, 259, 624-625 buffer sensitivity, 259, 625 ligation effects, 259, 625 mutation effects, 259, 626] baseline estimation [effect on parameters, 240, 542-543, 548-549 importance of, 240, 540 polynomial interpolation, 240, 540-541,549, 567 proportional method for, 240, 541-542, 547-548, 567] baseline subtraction and partial molar heat capacity, 259, 151 changes in solvent accessible surface areas, 240, 519-520, 528 characterization of membrane phase transition, 250,... 

Murthy, H. M., Qum, S. and Padmanabhan, R. (1999). Dengue virus NS3 serine protease. Crystal structure and insights into interaction of the active site with substrates by molecular modeling and structural analysis of mutational effects. J. Biol. Chem. 274, 5573-5580. 

Piepersberg W, Noseda V, Bock A (1979) Bacterial ribosomes with two ambiguity mutations effects of translational fidelity, on the response to aminoglycosides and on the rate of protein synthesis. Mol Gen Genet 171 23-34... 

Topal, M. D., Di Guiseppi, S. R., and Sinha, N. K. (1980). Molecular basis for substitution mutations Effect of primer terminal and template residues on nucleotide selection by phage T4 DNA polymerase in vitro. J. Biol. Chem. 255, 11717-11724. 

X Mao, S Shuman. Vaccinia virus mRNA (guanine-7-)methyltransferase mutational effects on cap methylation and AdoHcy-dependent photo-cross-linking of the cap to the methyl acceptor site. Biochemistry 35 6900-6910, 1996. 

The spectrum of mutational effects runs the gamut of bodily processes. Genes affect all structures and functions, and so do mutations. The impact ranges from trivial to tragic. Depending on the dominance and severity of a mutation, its effect may be immediate or spread over an enormous period. It is therefore impossible to describe in detail or to quantify all the consequences of an increase in the mutation rate. One generalization is apt, however the net effect of an increase in mutation rate is harmful, because almost all mutants with any detectable effect cure deleterious. 

Because data on mutagenesis in humans are meager and it is difficult to measure mutation in humans directly, it would be particularly useful to have measures of mutational effects on man. Many of these points have been discussed in conferences and by individual authors.78 171 313 31i+ 320 448 483... 

Oelschlaeger P, Klahn M, Beard WA et al (2007) Magnesium-cationic dummy atom molecules enhance representation of DNA polymerase beta in molecular dynamics simulations improved accuracy in studies of structural features and mutational effects. J Mol Biol 366 687-701. doi 10.1016/J.Jmb. 2006.10.095... 

Below the threshold mutation effect, there is almost no effect on repolarization time, which would explain why, in the great majority of patients, no QT prolongation is seen. 

Location Mutation Effect on binding Effect on activation... 

During experiments, coupling is observed through non-additive mutational effects. Two mutations are considered additive if the combined change in fitness is equal to the sum of the individual contributions of each mutation. Additivity implies a smooth landscape that can be easily... 

Figure 1.10 shows the mutation effect of the catalytically important His404 on the spectrum and illustrates how the spectrum can be used to observe changes in the vanadate... 

There are currently no reliable data on the dose-response relationship of benzene exposure and chromosomal effects. In light of the data of Ward et al. (1992), further investigation of mutational effects at low doses seems appropriate. Additional data on the quantitative relationship between measured exposures and clastogenic effects might provide an alternative biomarker of effect. 

Fricker, L. D., Berman, Y. L, Leiter E. H., Devi, L. A. (1996). Carboxypeptidase E activity is deficient in mice with the fat mutation Effect on peptide processing. 

The affinities of the two peptides for four calcium binding site mutants of calmodulin also provide important information. The B2K and B2Q calmodulins have Glu67 (in binding site 2) mutated to Lys and Gin respectively, and B4K and B4Q calmodulins have Glul40 (in binding site 4) mutated to Lys and Gin respectively. Each of these mutations effectively eliminates calcium binding to the altered site (3). 

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