Analysis mutation

Dall Acqua, W., Goldman, E.R., Eisenstien, E., Mariuzza, R.A. A mutational analysis of the binding of two different proteins to the same antibody. Biochemistry 25 9667-9676, 1996. 

In contrast to AMPA receptors, NMDA receptor channels display a prominent Ca2+ permeability, which is largely independent ofthe subunit composition. It has been shown by mutational analysis that the Ca2+ permeability of recombinant NMDA receptors is dependent on a residue at a position equivalent to the Q/R site of AMPA subunits. Both NR1 and NR2 subunits contain an asparagine (N) residue at this position. Replacing this N with an R within the NR1 subunit led to the formation of NMDA receptors with a strongly reduced Ca2+ permeability, whereas exchanging N for Q in the NR2 subunit had only a small effect,... 

Natural mutation of amino acids in the core of a protein can stabilize the same fold with different complementary amino acid types, but they can also cause a different fold of that particular portion. If the sequence identity is lower than 30% it is much more difficult to identify a homologous structure. Other strategies like secondary structure predictions combined with knowledge-based rules about reciprocal exchange of residues are necessary. If there is a reliable assumption for common fold then it is possible to identify intra- and intermolecular interacting residues by search for correlated complementary mutations of residues by correlated mutation analysis, CMA (see e.g., http //www.fmp-berlin.de/SSFA). 

Liu A, Neilands JB (1984) Mutational Analysis of Rhodotorulic Acid Synthesis in Rhodotorula philimanae. 58 97-106 Livage J, see Henry M (1991) 77 153-206... 

RUM H., Nielsen P.E., Egholm M., Berg R.H., Buchardt O., Stanley C. Single base pair mutation analysis by PNA directed PCR clamping. Nucleic Acids Res. 1993 21 5332-5336. 

Chanama S, RL Crawford (1997) Mutational analysis of pcpA and its role in pentachlorophenol degradation by Sphingomonas (Flavobacterium) chlorophenolica ATCC39723. Appl Environ Microbiol 63 4833-4838. 

Diagnosis of CF is based on two separate elevated sweat chloride concentrations of greater than or equal to 60 mEq/L (or mmol/L) obtained through pilocarpine iontophoresis (referred to as the sweat test ). Genetic testing (CFTR mutation analysis) may be performed to confirm the diagnosis, screen in utero, or detect carrier status. More than 70% of diagnoses are made by 12 months of age and almost all are made by age 12. 

B23. Beutler, E Kuhl, W Saenz, R. G. F., and Rodrigues, R. W., Mutation analysis of glucose-6-phosphate dehydrogenase (G6PD) variants in Costa Rica. Hum. Genet. 87,462-464 (1991). 

Cho J-H, Raleigh DP (2005) Mutational analysis demonstrates that specific electrostatic interactions can play a key role in the denatured state ensemble of proteins. J Mol Biol 353 174-185. 

Gonczy P, Schnabel H, Kaletta T, Amores AD, Hyman T, Schnabel R 1999 Dissection of cell division processes in the one cell stage Caenorhabditit elegant embryo by mutational analysis. J Cell Biol 144 927-946... 

Goncyy In our earlier mutational analysis of chromosome III, we identified another locus, called apo-1, which mutates to a yyg-8 like phenotype (Gonczy et al 1999b). 

Henderson JN, Remington SJ (2005) Crystal structures and mutational analysis of amFP486, a cyan fluorescent protein from Anemonia majano. Proc Natl Acad Sci USA 102 12712-12717... 

Heath KE, Gahan M, Whittall RA, Humphries SE. Low-density lipoprotein receptor gene (LDLR) world-wide website in familial hypercholesterolaemia update, new features and mutation analysis. Atherosclerosis 2001 154 243-246. 

Deletion/Mutational Analysis of elF3 Subunits and Ni2+ Affinity... 

Wertman, K. F., Drubin, D. G., and Botstein, D. (1992). Systematic mutational analysis of the yeast ACT1 gene. Genetics 132, 337-350. 

Graw, J., Brackmann, H.H., Oldenburg, J., Schneppenheim, R., Spannagl, M., and Schwaab, R. 2005. Haemophilia A from mutation analysis to new therapies. Nature Reviews Genetics 6(6), 488-501. 

Sivasubramanian, N. and Nayak, D. P. Mutational analysis of the signal-anchor domain of influenza virus neuraminidase. Proc. Natl. Acad. Sci. U.S.A. 84 1-5,1987. 

Hering, R., Petrovic, S., Mietz, E. M. et al. Extended mutation analysis and association studies of Nurrl (NR4A2) in Parkinson disease. Neurology 62 1231-1232, 2004. 

Bifunctional protein deficiency. The enzyme defect involves the D-bifunctional protein. This enzyme contains two catalytic sites, one with enoyl-CoA hydratase activity, the other with 3-hydroxyacyl-CoA activity [13]. Defects may involve both catalytic sites or each separately. The severity of clinical manifestations varies from that of a very severe disorder that resembles Zellweger s syndrome clinically and pathologically, to somewhat milder forms. Table 41-6 shows that biochemical abnormalities involve straight chain, branched chain fatty acids and bile acids. Bifunctional deficiency is often misdiagnosed as Zellweger s syndrome. Approximately 15% of patients initially thought to have a PBD have D-bifunctional enzyme deficiency. Differential diagnosis is achieved by the biochemical studies listed in Table 41-7 and by mutation analysis. 

Braverman, N., Chen, L., Lin, P. et al. Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype. Hum. Mutat. 20 284-297, 2002. 

T. Happe, K. Schiitz, H. Bohm (2000) Transcriptional and mutational analysis of the uptake hydrogenase of the filamentous cyanobacterium Anabaena variabilis ATCC 29413.. /. Bacteriology, 182 1624-1631... 

Fan, G.-F., Ray, K., Zhao, X., Goldsmith, R K and Spiegel, A. M. (1998) Mutational analysis of the cysteines in the extracellular domian of the human Ca2+ receptor effects on cell surface expression, dimerization and signal transduction. FEBSLett. 436, 353-356. 

---