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There is no known mechanism (nor can we imagine one) that links an mRNA 3' processing mutation in the DSE to proteolysis of a protein at the cell surface or the cytoplasm (note that this mutation which lies outside the cleavage site is not expected to be in the polyadenylated mRNA transported to the cytoplasm for translation).
The R105Q mutation, which lies within the CID, can specifically abolish the Orc1 inhibition of cyclin E-CDK2 kinase but not cyclin A-CDK2 kinase.
Crosslinking of U-X to NPC1 was abolished by the P691S mutation, which lies in the sterol-sensing domain of NPC1.
In mutIV-mix-2 however only the second mutation which lies within the RNAse domain was found, indicating that this mutation is superior to the other and thus propagated across all strains during the prolonged cultivation.
Interestingly, the D169G mutation, which lies in the RRM1 domain, appears less toxic in the eye than the other alleles, consistent with previous reports that RNA-binding mediated by the RRM1 domain is crucial for mediating neurotoxicity (Voigt et al., 2010).
Similar(55)
The original class 2 mutation, which lay in a gene called ispA [ 5], seemed to work by stabilizing the proliferating L-forms and preventing them from lysing [ 7].
Simple methods such as restriction fragment length polymorphisms can be used for mutations which lay within an enzyme restriction site which allows the digestion of the PCR product with specific restriction enzymes.
In contrast to WT PTEN, both cancer-associated somatic and germline-derived PTEN missense mutations, which lie within the ATP-binding motifs, result in mutant PTEN that does not bind ATP efficiently.
The second is p.E1317Q, the mutation site of which lies between the first and second 20-amino acid β-catenin binding sites.
Unexpectedly, mutation of Leu133, which lies deep in the heme pocket, also disrupts dimer formation, but at first glance, it is unclear how this result fits with the closed conformer dimer interface hypothesis.
Mutation of PA residue F427, which lies within the pore lumen, to Ala or many other amino acids causes severe defects in PA-mediated toxicity and in PA-dependent translocation across planar bilayers.
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Justyna Jupowicz-Kozak
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