Considering that the W402X mutation is located in exon 9 of theIDUAgene and the splice acceptor site of this exon is a mere 15 bp away from this mutation, we chose 85-C-15 as a candidate arRNA for further optimization to circumvent interference with RNA splicing. We also tested whether ...
there are studies reporting EZH2 loss-of function mutations in the same spectrum of myeloid disorders displaying mutated SRSF2 [162,163]. These data suggest that Pro95 mutation turns SRSF2 into an oncoprotein that uses AS-NMD to shut down...
Our predictions are based on the information loss score D which defines a normalized ratio of the information content S of the protein without (i.e. the WT) and with the mutation (mutant). The larger the score D is the greater is the information loss due to the mutation. We use this ...
Ackerman JP,Smestad JA,Tester DJ,et al.Whole exome sequencing,familial genomic triangulation,and systems biology converge to identify a novel nonsense mutation in TAB2-encoded TGF-beta activated kinase 1 in a child with polyvalvular syndrome[J].Congenit Heart Dis,2016,11(5):452-461....
The loss of arginine decarboxylase activity in the AaxB protein from L2/434 was predicted due to a nonsense mutation, but the inactivation of D/UW-3 AaxB was not obvious from the protein sequence. Nor could we predict that the L2/434 AaxC would be inactive, while the D/UW-3 AaxC wo...
Nonsense mutation is a point mutation within the coding region that introduces a pre-stop codon (TGA or TAG or TAA) that produces truncated proteins. Nonsense mutation(s) can produce premature termination codons (PTCs), which lead to nonsense-mediated mRNA decay (NMD) with almost no expression...
The loss of arginine decarboxylase activity in the AaxB protein from L2/434 was predicted due to a nonsense mutation, but the inactivation of D/UW-3 AaxB was not obvious from the protein sequence. Nor could we predict that the L2/434 AaxC would be inactive, while the D/UW-3 AaxC wo...