Mutation causes

Myotonia is muscle stiffness, in which muscle relaxation after voluntary contraction is impaired. Mutations in several ion channel genes (Cl, Na, Ca, K channels) can cause myotonias, which can sometimes be differentiated clinically (e.g. paramyotonia is cold-sensitive). C1C-1 mutations cause pure myotonia congenita which is not sensitive to temperature. Channel myotonia comes in a recessive (Becker type)... 

Figure 2.7 Enhanced E values of the PAL-catalyzed hydrolysis of rac- by cumulative mutations caused by four rounds ofepPCR [6],...

The third reason for favoring a non-radical pathway is based on studies of a mutant version of the CFeSP. This mutant was generated by changing a cysteine residue to an alanine, which converts the 4Fe-4S cluster of the CFeSP into a 3Fe-4S cluster (14). This mutation causes the redox potential of the 3Fe-4S cluster to increase by about 500 mV. The mutant is incapable of coupling the reduction of the cobalt center to the oxidation of CO by CODH. Correspondingly, it is unable to participate in acetate synthesis from CH3-H4 folate, CO, and CoA unless chemical reductants are present. If mechanism 3 (discussed earlier) is correct, then the methyl transfer from the methylated corrinoid protein to CODH should be crippled. However, this reaction occurred at equal rates with the wild-type protein and the CFeSP variant. We feel that this result rules out the possibility of a radical methyl transfer mechanics and offers strong support for mechanism 1. 

Waters PJ, Scriver CR, Parniak MA Homomeric and heteromeric interactions between wild-type and mutant phenylalanine hydroxylase subunits evaluation of two-hybrid approaches for functional analysis of mutations causing hyperphenylalanine-mia. Mol Genet Metab 2001 73 230. 

Weitzman, S.A. and Stossel, T.P. (1981). Mutation caused by human phagocytes. Science 212, 546-547. 

Burger M, Burger JA, Hoch RC, Oades Z, Takamori H, Schraufstatter IU. Point mutation causing constitutive signaling of CXCR2 leads to transforming activity similar to Kaposi s sarcoma herpesvirus-G protein-coupled receptor. 1 Immunol 1999 163(4) 2017-2022. 

Fig. 2. Representative mutations causing erythroenzymopathies. PK, pymvate kinase G6PD, glu-cose-6-phosphate dehydrogenase PFK, phosphofructokinase.

Aiach M., Gandrille S., Emmerich J. Areview of mutations causing deficiencies of antithrombin, protein C and protein S. Thromb Haemost 1995 74,81-9. 

Many of the mutations caused by artificially produced base analogues are transitions. Mutations are produced by base analogues in one of two different ways. On entering the cell, a base analogue is converted to a nucleoside triphosphate that base pairs, perhaps incorrectly, with a DNA template and is inserted into the nucleotide chain. This is one way in which the mutation can be produced. The other requires an additional round of replication so that an improper base pair forms as a result of the previously incorporated analogue. The result in both cases is a permanently modified DNA. 

BCR-ABL tyrosine kinase Cancer Point mutation causes resistance to STI-571 compound 21... 

Richardson, J. P., Mohammad, S. S., and Pavitt, G. D. (2004). Mutations causing childhood ataxia with central nervous system hypomyelination reduce eukaryotic initiation factor 2B complex formation and activity. Mol. Cell Biol. 24, 2352—2363. 

Berezovska, O., Lleo, A., Fieri, L. D., Frosch, M. P., Stern, E. A., Bacskai, B. J. and Flyman, B. T. (2005). Familial Alzheimer s disease presenilin 1 mutations cause alterations in the conformation of presenilin and interactions with amyloid precursor protein. J. Neurosci. 25, 3009-17. 

Swanton, E., Holland, A., High, S., and Woodman, P. (2005) Disease-associated mutations cause premature oligomerization of myelin proteolipid protein in the endoplasmic reticulum. PNAS 102, 4342-4347. 

Jinnah, H. A., Harris, J. C., Nyhan, W. L. and O Neill, J. P. The spectrum of mutations causing HPRT deficiency an update. Nucleosides Nucleotides Nucleic Acids 23 1153-1160,2004. 

PRNP mutations cause neurodegeneration and influence disease progression 662... 

Rohe, C. F., Montagna, P., Breedveld, G., Cortelli, P., Oostra, B. A. and Bonifati, V. Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism. Ann. Neurol. 56 427-431, 2004. 

Ptacek, L., Tawil, R., Griggs, R. et al. Dihydropyridine receptor mutations cause hypokalemic periodic paralysis. Cell 77 863-898,1994. 

Wong, P. C., Pardo, C. A., Borchelt, D. R. et al. An adverse property of a familial ALS-linked SOD1 mutation causes motor neuron disease characterized by vacuolar degeneration of mitochondria. Neuron 14 1105-1116,1995. 

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