In yet another study, IDH mutations were significantly associated with normal karyotype and IDH1 mutations clustered with NPM1 but not CEBPA mutations and predicted inferior prognosis, in the absence of FLT3/ITD mutations; IDH2-mutated patients with normal karyotype also had poor prognosis.
c, Numbers of mutations and predicted epitopes for all study subjects (Supplementary Table 4).
Mutations are described using HGVS nomenclature and the positions of mutations and predicted pathogenic events are reported with respect to reference sequence NM_004006.2 for the Dp427m isoform.
The Paramyxovirinae show little pattern of correlation between CICPs and the concentration of disorder in the N-terminus; however, there is an overlap of residues that are correlated mutations and predicted disordered in the C-terminus residues ∼546 547 of the MSA (Figs. 3, 4C).
That we find no significant correlation between the location of mutations and predicted CTL epitopes might be due to differences between CTL epitopes in the strength of the immune selection pressure imposed on them, which would reduce the detection power of our method of testing for selection pressure.
Accurately defining protein function is an essential step in analyzing mutations and predicting their possible consequences.
The p.R562X mutation of spastin was first described in a screen for the spectrum of SPG4 mutations and predicted to be a nonsense mutation (24).
Known SNP, catalogued cancer related somatic mutations and predicted or validated targets of RNA-editing enzymes did not support the increased SBS frequency in cancer.
However, no web-based tool is currently available that can establish the functional consequences of ANG mutations and predict the loss-of-function(s) mechanisms.
Later (Scientific Reports, January 2013, doi 10.1038/srep01225 ), the authors considerably expanded their analysis to other mutations and predicted the effect of several other mutations entirely (I46V, K17E, R31K) or partially (R121H and K54E).
