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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.
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.
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.
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).
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.
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Accurately defining protein function is an essential step in analyzing mutations and predicting their possible consequences.
MutPred (Li et al., 2009) evaluates the probabilities of gain or loss of structure and function upon mutations and predicts their impact using a Random Forest-based approach.
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.
In addition, the modelization of Gigaxonin structure allows us to map GAN mutations and predict a general destabilization of disease-associated mutants, which is further confirmed by reduced half-lives of mutant Gigaxonins.
To identify common weaknesses of CIN gene mutations and predict novel candidate therapeutic processes and target genes from yeast data, we developed chemical and genetic interaction maps derived from high-throughput genetic screens conducted in this study and from the literature.
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