As shown in Figure 3A, both of the mutations: acc (AGAATCGCTTGA to AACCTCGCTTGA) and aag (AGAATCGCTTGA to AGAATCAAGTGA) in MURE1 affected the activation of the yme1l1 promoter by mtUPR, with the aag mutation having a somewhat greater effect than the acc mutation (Fig. 3A).
In parallel, the mutations reduced the proteolytic activity of CtpB against 4FAproc with the R168A mutation having a milder effect than the R168F exchange.
PIK3CA genotype from the primary (not metastatic) tumor was found to be prognostic, with patients bearing a PIK3CA mutation having a worse clinical outcome (P = 0.0001) [ 67].
This corroborates many previous studies that have indicated the prognostic significance of mutation of one allele of either the IDH1 or IDH2 genes; patients with a mutation having a more favourable outcome [ 10].
To compute any σij value, the model uses tracked parent offspring relationships of distinct antigenic variants, with mother daughter variants differing by one antigenic mutation having a degree of cross-immunity that is drawn from the specified antigenic size distribution (see below).
Analysis examining how conserved an amino acid sequence is through evolution and between genes in a family can help to increase the confidence of a mutation having a deleterious effect (Wang et al. 2011; Johansson et al. 2012; Sassi et al. 2014; Smith et al. 2014; Xu et al. 2014).
