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While the donor side mutations changed systematically the number of H-bonds to P, the acceptor side mutations modified the energetics of QA by altering the van-der-Waals and electronic interactions (M265IT) and H-bond network to the acidic cluster around QB (M234EH, M234EL, M234EA and M234ER).
Several Kir4.1 mutations identified in SeSAME syndrome patients have been studied, and although all mutations modified the channel function, the mechanisms underlying these disturbances are different.
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Recently, various genes have been identified whose mutations modify the life span of certain animals.
Genetic mutation is the ultimate source of novelty in biological evolution but again, the vast majority of mutations modify the nature of preexisting structures rather than produce utterly new features.
Several epigenetic diseases are already known that may be inherited through the somatic and the germinal line: fragile X syndrome, in which ATRX gene mutations modify the methylation pattern of ribosomial RNA and, by methylation of CGG expansions in the FMR1 gene, silence the gene; the Angelman and Prader-Willi, and Rett syndromes; also, many colonic cancers and leukemias.
For instance, during evolution, mutations modify the architecture of brains and external appearances, novel behaviors appear and reciprocal lethal/sterile genetic systems emerge to block gene flow.
Mutations modifying the DNA methylation machinery in A. thaliana lead to mobilization of TEs [ 79].
We examined whether the HFE mutations modify the impact of lead on PP in community-dwelling older men.
Ben Lehner (European Molecular Biology Laboratory - Centre de Regulació Genòmica, Spain) presented exciting results from Caenorhabditis elegans experiments showing how some gene mutations modify the effect of mutations of other genes.
We reasoned that if the alanine mutations modify the IscU·HscB interaction, the synergism between the two proteins might also be affected.
These mutations modify the geometry of the ATP binding cleft in the tyrosine kinase, resulting in a hyperactive form of the receptor.
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