For example, our platform was less sensitive for minority variants in which two mutations are separated by less than six bases, and we were unable to detect variants with neighboring mutations (Figure S9 and data not shown).
Although these clusters of mutations are separated in a linear representation of MEK1, when mapped on to a three-dimensional (3D) model of MEK1 they are brought closer together, forming a mutational hot-spot that is proximal to the NRR and the ATP-binding site and thus is well positioned to influence catalytic activity.
Different molecular signatures were present in the PTC sub-set: cPTC formed a separate sub-group from fvPTC and, among these PTC subtypes, samples with RAS/ BRAF mutations were separated from samples without mutations.
Those two point mutations were separated from each other in DNA sequence of petB, which was important from a genetic point of view for the planned experiments (this separation was one of the reasons for selection of H198N over other mutations in cytochrome b that are also known to inactivate the Qo site but are closer to G158W in sequence).
For Western blot analyses, albumin depleted plasma samples (SwellGel Blue Albumin Removal Kit, Pierce, Rockford, IL) and protein samples extracted from cerebellar brain homogenates of FTLD patients with and without GRN mutations, were separated by SDS PAGE using pre-cast 4 20% Tris Glycine gels (Invitrogen, Carlsbad, CA) and transferred to nitrocellulose membranes.
Eventually, through multiple generations and recombination events, the marker and the mutation are separated by a recombination event in some individuals.
Furthermore, after the e(cac 2902 mutation was separated from cac TS2, it exhibited a TS paralytic phenotype by itself.
We designate these as proximal mutations, which are separated from each other by a median IMD of only 727 bp with >99% of them being within 8.5 kb of their closest neighbour.
a: Given 10,000 independent simulations, outcomes for each mutation pair are separated into one or more regions in parameter space (see Figure 2), in addition, the frequency of protected polymorphisms is given for each region (see Figure 4).
To ensure that these detected mutation series have one identical internal representation, we further normalize them to the format, where all the mutations in a series are separated by the notation "/".
Haplotype segregating with the IVS16-2A>G mutalleleslleles of phased alleles are separated by a dash.
