This mutation results in elimination of the terminal 197 amino acids, including the C-terminal binding motif critical for interactions with TRAF6 and TAK1. ConclusionsThe combination of WES, genomic triangulatio
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 ...
BMC Medical Genetics 2013, 14:3 http://www.biomedcentral.com/1471-2350/14/3 RESEARCH ARTICLE Open Access Three novel germ-line VHL mutations in Hungarian von Hippel-Lindau patients, including a nonsense mutation in a fifteen-year-old boy with renal cell carcinoma Gergely Losonczy1*, Ferenc ...
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...
a tumor suppressor gene can experience an NMD-resistant mutation, leading to a dominant-negative protein that hampers the wild-type function.cThe tumor microenvironment modulates NMD in order to overcome different types of cellular stresses associated with the unconstrained growth of the tumor. Stresses...
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...