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PMut: a web-based tool for the annotation of pathological variants on proteins, 2017 update

Víctor López-Ferrando, Andrea Gazzo, Xavier de la Cruz, Modesto Orozco, Josep Ll Gelpí
2017 Nucleic Acids Research  
We present here a full update of the PMut predictor, active since 2005 and with a large acceptance in the field of predicting Mendelian pathological mutations.  ...  PMut Web portal allows the user to perform pathology predictions, to access a complete repository of pre-calculated predictions, and to generate and validate new predictors.  ...  ACKNOWLEDGEMENTS We thank Dr Patrick Aloy for providing protein interactome data. We thank Jose A. Alcantara, and Dr. Adam Hospital, for technical assistance.  ... 
doi:10.1093/nar/gkx313 pmid:28453649 pmcid:PMC5793831 fatcat:rovxnj2l3rbebnxxyxzxxwsb2y

BioExcel Deliverable D4.6 – Final report on dissemination and training

Vera Matser, Michelle Mendonca, Rossen Apostolov
2019 Zenodo  
We provide a brief update on the activities of the Training Interest Group, the activities during the second period have centered on spreading the word of the methodology used for the BioExcel training  ...  The website has been the main medium for collecting and disseminating information. It attracted on average 1000 visitors/month, 64000 views during the reporting period.  ...  López- Ferrando et. al 2017 PMut: a web-based tool for the annotation of pathological variants on proteins, 2017 update.  ... 
doi:10.5281/zenodo.3564159 fatcat:c56zd3izozd3dasqgnc5khsb5e

Impact of Deleterious Mutations on Structure, Function and Stability of Serum/Glucocorticoid Regulated Kinase 1: A Gene to Diseases Correlation

Mohamed F AlAjmi, Shama Khan, Arunabh Choudhury, Taj Mohammad, Saba Noor, Afzal Hussain, Wenying Lu, Mathew Suji Eapen, Vrushali Chimankar, Philip M Hansbro, Sukhwinder Singh Sohal, Abdelbaset Mohamed Elasbali (+1 others)
2021
Several pathogenic and destabilizing mutations were identified based on their impact on SGK1 and analyzed in detail.  ...  Serum and glucocorticoid-regulated kinase 1 (SGK1) is a Ser/Thr protein kinase involved in regulating cell survival, growth, proliferation, and migration.  ...  The SIFT web tool is based on the physical properties of a protein and separates the mutations into tolerated and intolerant substitutions.  ... 
doi:10.3389/fmolb.2021.780284 pmid:34805284 pmcid:PMC8597711 fatcat:vfvujwb76jgljpmrbtkuqpalya

Clinical, Molecular, and Bioinformatics Analysis of Axenfeld-Rieger Syndrome

Morteza Seifi
2017
pathogenicity of missense variants within other FOX and PITX proteins and to prioritize variants for functional characterization. v  ...  However, in the remaining cases, the genetic basis of the ARS is still unknown and identifying new pathogenetic variants is becoming increasingly important for ARS As a conclusion, the results showed that  ...  PMUT focuses on the annotation and prediction of pathological variants. PMUT is trained with a massive database of human diseasecausing and neutral variants.  ... 
doi:10.7939/r3f766n0k fatcat:cnll6m3mffapfpono3yvjps6om