The effects of a mutation on protein structure and function

From NGS to mutation to structural interpretation

Date: June 3-4, 2014 Location: CMBI, UMC Radboud, Nijmegen, the Netherlands Course teachers: Gert Vriend (CMBI), Hanka Venselaar (CMBI) Course website & registration: http://swift.cmbi.ru.nl/gv/NGS . More information: Celia.vanGelder@radboudumc.nl<mailto:Celia.vanGelder@radboudumc.nl> Course description Much research in NGS human DNA diagnostics labs is aimed at determining mutations causal for disease states. Many journals these days do no longer publish such studies unless accompanied from at least a computational prediction of what the mutation does to the protein in terms of its structure and function. This two day course aims at generating a level of understanding of the relation between protein structures, amino acids, and function. After the course the participants will be able to understand the output of compute servers that predict the structural and functional effects of mutations in proteins with known structure (or for which the structure can be predicted with homology modelling). The users will also be able to perform elementary visual inspections of protein structures with and without mutations using the YASARA software (that is free and runs on all computers). During the course we will work with the YASARA visualizer and the HOPE mutation effect prediction software (http://www.cmbi.ru.nl/hope/ ). The educational material and the seminars will be sufficiently general, though, to be applicable to other computational tools too. Target audience The course is meant for novices in the protein structure field. As prior knowledge we expect that people have some minimal knowledge about amino acids, have an idea about how to operate BLAST, and can use a browser. Course programme The course website, including the full course programme, can be found at : http://swift.cmbi.ru.nl/gv/NGS Dr. Celia W.G. van Gelder Coordinator Education CMBI Projectleader Education NBIC tel. +31-(0)24-3666120 e-mail: Celia.vanGelder@radboudumc.nl<mailto:C.vanGelder@umcn.nl> websites: www.cmbi.ru.nl<http://www.cmbi.ru.nl/>, www.nbic.nl<http://www.nbic.nl/>, www.biosb.nl<http://www.biosb.nl> Postal address: CMBI 260 Radboud University Nijmegen-Medical Centre /NCMLS PO Box 9101, 6500 HB Nijmegen The Netherlands Het Radboudumc staat geregistreerd bij de Kamer van Koophandel in het handelsregister onder nummer 41055629. The Radboud university medical center is listed in the Commercial Register of the Chamber of Commerce under file number 41055629.