Octocorals may, conversely, display higher rates of nuclear mutation than hexacorals, as displayed for our 18S comparison.
This mutation, as well as the equivalent mutation (E85K) in B. anthracis topoisomerase IV, has been shown to display decreased rates of DNA relaxation and decatenation.
Strikingly, ZnT3 harboring the Y357F mutation behaved as a "gain-of-function" mutant as it displayed increased ZnT3 oligomerization, targeting to SLMVs, and increased resistance to zinc toxicity.
For each tumour, somatic mutations are displayed as intermutational distance (IMD) plots (top left), as described in Figure 1B.
In this line and as a proof of principle we introduced a histone point mutation that displayed enhanced autophagy during aging.
As expected for a cell line with an activating β-catenin mutation, HepG2 displayed significant endogenous signalling activity (12.3±3.3).
Kidneys of patients with an inherited VHL mutation frequently display cystic lesions as well as ccRCC.
For each mutation, annotations are displayed, such as the affected gene, the position in the genome, the type (for example, substitution), the effect (for example, missense or intron), and the influence on the protein sequence (for example, p.Y58F means, that the Tyrosine residue at position 58 is substituted by a Phenylalanine).
Although patients carrying MECP2 mutations as well as Mecp2 knockout mice display a normal brain cytoarchitecture without detectable loss of neurons [3,9], recent studies indicate that MeCP2 regulates the number and function of excitatory synapses in the brain [7], suggesting that changes in neuronal functions may represent the primary cause of the neurological phenotype in RTT.
The unaffected mutation carriers smokers displayed similar values as the non-smokers.
Proneural tumors exhibit a higher frequency of PDGFRA or IDH1 mutations, as well as a G-CIMP+ (glioma-CpG island methylator phenotype) subgroup that displays global hypermethylation, which overlaps with IDH1 mutations.
