Analysis of protein-altering variants in telomerase genes and their association with MUC5B common variant status in patients with idiopathic pulmonary fibrosis: A candidate gene sequencing study. Lancet Respir. Med. 2018, 6, 603-614. [CrossRef]...
Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity Valérie Turcot, Yingchang Lu, Heather M. Highland, Claudia Schurmann, Anne E. Justice, Rebecca S. Fine, Jonathan P. Bradfield, Tõnu Esko, Ayush Giri,...
Protein-altering variant PTV: Protein-truncating variant TRL: Triglyceride-rich lipoproteins T2D: Type 2 diabetes VLDL: Very-low-density lipoprotein WES: Whole-exome sequencing WGS: Whole-genome sequencing References Naghavi M, Abajobir AA, Abbafati C, Abbas KM, Abd-Allah F, Abera SF...
We employed the same variation annotation workflow as was used in SCHEMA for ease of replication and comparison. Specially, annotation by LOFTEE (as implemented in the Variant Effect Predictor)56was applied to variants that passed all quality control filters, and the analysis was restricted to the...
Any changes to the protein sequence itself come with the risk of altering the activity of the protein. Once a protein sequence has been selected, the appropriate expression system must be designed. The promoter, origin of replication, and the inclusion of solubility tags (MBP, DsbC, SUMO, ...
After double digestion of asubtilisin Carlsbergvariant (GenBank: HM147766.1, harboring the silent mutations C479G, T480C, G482A, G869A, T1052C and G1055C) withBamHI andXmaI, the gene was subcloned into pHY300PLK using T4 DNA ligase. The resulting recombinant plasmid, named pHYscarlsberg ...
Consistent with this mutation not altering autoinhibitory constraints, live-cell imaging studies reveal that the basal signaling output of PKCα-M489V is unchanged. However, the mutant enzyme in cells displays increased sensitivity to an inhibitor that is ineffective toward scaffolded PKC, ...
For example, altering the tertiary structure of a protein can impact its thermal stability but preserve its activity. In other cases, changes in the surface of the protein do not alter its tertiary structure but can decrease its biological activity (Fujita et al., 2007). Hence, the selection...
The size of ExAC makes it possible to directly observe mutational recurrence: instances in which the same mutation has occurred multiple times independently throughout the history of the sequenced populations. For instance, among synonymous (non-protein-altering) variants, a class of variation expected...
the association was stronger in the Israeli case-control study than in North Americans (Fig.2d) and the lack of variant carriers meant this analysis was not informative in Europeans. As shown in Supplementary Table7, the ORs for LAD risk among L2307F carriers were 3.36 in North Americans (...