<> <http://www.w3.org/2000/01/rdf-schema#comment> "The repository administrator has not yet configured an RDF license."^^<http://www.w3.org/2001/XMLSchema#string> . <> <http://xmlns.com/foaf/0.1/primaryTopic> <https://discovery.ucl.ac.uk/id/eprint/10087663> . <https://discovery.ucl.ac.uk/id/eprint/10087663> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://purl.org/ontology/bibo/AcademicArticle> . <https://discovery.ucl.ac.uk/id/eprint/10087663> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://purl.org/ontology/bibo/Article> . <https://discovery.ucl.ac.uk/id/eprint/10087663> <http://purl.org/dc/terms/title> "Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/eprint/10087663> <http://purl.org/ontology/bibo/abstract> "The TSC1 and TSC2 gene products interact to form the TSC complex, an important negative regulator of the mechanistic target of rapamycin (mTOR) complex 1 (TORC1). Inactivating mutations in TSC1 or TSC2 cause tuberous sclerosis complex (TSC), and the identification of a pathogenic TSC1 or TSC2 variant helps establish a diagnosis of TSC. However, it is not always clear whether TSC1 and TSC2 variants are inactivating. To determine whether TSC1 and TSC2 variants of uncertain clinical significance (VUS) affect TSC complex function and cause TSC, in vitro assays of TORC1 activity can be employed. Here we combine genetic, functional and structural approaches to try and classify a series of 15 TSC2 VUS. We investigated the effects of the variants on the formation of the TSC complex, on TORC1 activity and on TSC2 preâ€mRNA splicing. In 13 cases (87%), the functional data supported the hypothesis that the identified TSC2 variant caused TSC. Our results illustrate the benefits and limitations of functional testing for TSC."^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/eprint/10087663> <http://purl.org/dc/terms/date> "2020-04" . <https://discovery.ucl.ac.uk/id/document/1094730> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://purl.org/ontology/bibo/Document> . <https://discovery.ucl.ac.uk/id/eprint/10087663> <http://purl.org/ontology/bibo/volume> "41" . <https://discovery.ucl.ac.uk/id/eprint/10087663> <http://purl.org/ontology/bibo/issue> "4" . <https://discovery.ucl.ac.uk/id/publication/ext-e83dca19b8643350b8ea3606dd8fbb0f> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://purl.org/ontology/bibo/Collection> . <https://discovery.ucl.ac.uk/id/publication/ext-e83dca19b8643350b8ea3606dd8fbb0f> <http://xmlns.com/foaf/0.1/name> "Human Mutation"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/eprint/10087663> <http://purl.org/dc/terms/isPartOf> <https://discovery.ucl.ac.uk/id/publication/ext-e83dca19b8643350b8ea3606dd8fbb0f> . <https://discovery.ucl.ac.uk/id/eprint/10087663> <http://purl.org/ontology/bibo/status> <http://purl.org/ontology/bibo/status/published> . <https://discovery.ucl.ac.uk/id/eprint/10087663> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-e32a08df51b8c0aaa440daac9cc5f5f2> . <https://discovery.ucl.ac.uk/id/eprint/10087663> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10087663#authors> . <https://discovery.ucl.ac.uk/id/eprint/10087663#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_1> <https://discovery.ucl.ac.uk/id/person/ext-e32a08df51b8c0aaa440daac9cc5f5f2> . <https://discovery.ucl.ac.uk/id/eprint/10087663> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-6bdc395b1727c29f60c20fb4eea28db8> . <https://discovery.ucl.ac.uk/id/eprint/10087663> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10087663#authors> . <https://discovery.ucl.ac.uk/id/eprint/10087663#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_2> <https://discovery.ucl.ac.uk/id/person/ext-6bdc395b1727c29f60c20fb4eea28db8> . <https://discovery.ucl.ac.uk/id/eprint/10087663> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-2608981e535bcf23a13f30d366c85574> . <https://discovery.ucl.ac.uk/id/eprint/10087663> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10087663#authors> . <https://discovery.ucl.ac.uk/id/eprint/10087663#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_3> <https://discovery.ucl.ac.uk/id/person/ext-2608981e535bcf23a13f30d366c85574> . <https://discovery.ucl.ac.uk/id/eprint/10087663> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-57e5c855a0c9dd4561518b8eab42f219> . <https://discovery.ucl.ac.uk/id/eprint/10087663> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10087663#authors> . <https://discovery.ucl.ac.uk/id/eprint/10087663#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_4> <https://discovery.ucl.ac.uk/id/person/ext-57e5c855a0c9dd4561518b8eab42f219> . <https://discovery.ucl.ac.uk/id/eprint/10087663> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-00189662282e9b5d5ecf2f0782e53995> . <https://discovery.ucl.ac.uk/id/eprint/10087663> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10087663#authors> . <https://discovery.ucl.ac.uk/id/eprint/10087663#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_5> <https://discovery.ucl.ac.uk/id/person/ext-00189662282e9b5d5ecf2f0782e53995> . <https://discovery.ucl.ac.uk/id/eprint/10087663> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-396de66a217ad5128cba9651a77723d3> . <https://discovery.ucl.ac.uk/id/eprint/10087663> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10087663#authors> . <https://discovery.ucl.ac.uk/id/eprint/10087663#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_6> <https://discovery.ucl.ac.uk/id/person/ext-396de66a217ad5128cba9651a77723d3> . <https://discovery.ucl.ac.uk/id/eprint/10087663> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-a0650afb1c030022fe2b9c1936d4d3ed> . <https://discovery.ucl.ac.uk/id/eprint/10087663> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10087663#authors> . <https://discovery.ucl.ac.uk/id/eprint/10087663#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_7> <https://discovery.ucl.ac.uk/id/person/ext-a0650afb1c030022fe2b9c1936d4d3ed> . <https://discovery.ucl.ac.uk/id/eprint/10087663> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-35cad593c148cc4be717d53ac058bcd7> . <https://discovery.ucl.ac.uk/id/eprint/10087663> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10087663#authors> . <https://discovery.ucl.ac.uk/id/eprint/10087663#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_8> <https://discovery.ucl.ac.uk/id/person/ext-35cad593c148cc4be717d53ac058bcd7> . <https://discovery.ucl.ac.uk/id/eprint/10087663> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-95e983d5ddb228a123904f9efc73690f> . <https://discovery.ucl.ac.uk/id/eprint/10087663> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10087663#authors> . <https://discovery.ucl.ac.uk/id/eprint/10087663#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_9> <https://discovery.ucl.ac.uk/id/person/ext-95e983d5ddb228a123904f9efc73690f> . <https://discovery.ucl.ac.uk/id/eprint/10087663> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-6f3b24ae20254cd3eeaca102fd0617bd> . <https://discovery.ucl.ac.uk/id/eprint/10087663> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10087663#authors> . <https://discovery.ucl.ac.uk/id/eprint/10087663#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_10> <https://discovery.ucl.ac.uk/id/person/ext-6f3b24ae20254cd3eeaca102fd0617bd> . <https://discovery.ucl.ac.uk/id/eprint/10087663> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-9e53bbe0d6b69a1e6dc56e105b0cf423> . <https://discovery.ucl.ac.uk/id/eprint/10087663> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10087663#authors> . <https://discovery.ucl.ac.uk/id/eprint/10087663#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_11> <https://discovery.ucl.ac.uk/id/person/ext-9e53bbe0d6b69a1e6dc56e105b0cf423> . <https://discovery.ucl.ac.uk/id/eprint/10087663> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-7af30b444ed47947f9b5587c791389cf> . <https://discovery.ucl.ac.uk/id/eprint/10087663> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10087663#authors> . <https://discovery.ucl.ac.uk/id/eprint/10087663#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_12> <https://discovery.ucl.ac.uk/id/person/ext-7af30b444ed47947f9b5587c791389cf> . <https://discovery.ucl.ac.uk/id/eprint/10087663> <http://purl.org/dc/terms/creator> <https://discovery.ucl.ac.uk/id/person/ext-125d8d8aff1554714a421a544f2c6aff> . <https://discovery.ucl.ac.uk/id/eprint/10087663> <http://purl.org/ontology/bibo/authorList> <https://discovery.ucl.ac.uk/id/eprint/10087663#authors> . <https://discovery.ucl.ac.uk/id/eprint/10087663#authors> <http://www.w3.org/1999/02/22-rdf-syntax-ns#_13> <https://discovery.ucl.ac.uk/id/person/ext-125d8d8aff1554714a421a544f2c6aff> . <https://discovery.ucl.ac.uk/id/person/ext-e32a08df51b8c0aaa440daac9cc5f5f2> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> . <https://discovery.ucl.ac.uk/id/person/ext-e32a08df51b8c0aaa440daac9cc5f5f2> <http://xmlns.com/foaf/0.1/givenName> "LG"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-e32a08df51b8c0aaa440daac9cc5f5f2> <http://xmlns.com/foaf/0.1/familyName> "Dufner Almeida"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-e32a08df51b8c0aaa440daac9cc5f5f2> <http://xmlns.com/foaf/0.1/name> "LG Dufner Almeida"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-125d8d8aff1554714a421a544f2c6aff> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> . <https://discovery.ucl.ac.uk/id/person/ext-125d8d8aff1554714a421a544f2c6aff> <http://xmlns.com/foaf/0.1/givenName> "M"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-125d8d8aff1554714a421a544f2c6aff> <http://xmlns.com/foaf/0.1/familyName> "Nellist"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-125d8d8aff1554714a421a544f2c6aff> <http://xmlns.com/foaf/0.1/name> "M Nellist"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-95e983d5ddb228a123904f9efc73690f> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> . <https://discovery.ucl.ac.uk/id/person/ext-95e983d5ddb228a123904f9efc73690f> <http://xmlns.com/foaf/0.1/givenName> "D"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-95e983d5ddb228a123904f9efc73690f> <http://xmlns.com/foaf/0.1/familyName> "Kümmel"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-95e983d5ddb228a123904f9efc73690f> <http://xmlns.com/foaf/0.1/name> "D Kümmel"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-35cad593c148cc4be717d53ac058bcd7> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> . <https://discovery.ucl.ac.uk/id/person/ext-35cad593c148cc4be717d53ac058bcd7> <http://xmlns.com/foaf/0.1/givenName> "A"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-35cad593c148cc4be717d53ac058bcd7> <http://xmlns.com/foaf/0.1/familyName> "Kenter"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-35cad593c148cc4be717d53ac058bcd7> <http://xmlns.com/foaf/0.1/name> "A Kenter"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-7af30b444ed47947f9b5587c791389cf> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> . <https://discovery.ucl.ac.uk/id/person/ext-7af30b444ed47947f9b5587c791389cf> <http://xmlns.com/foaf/0.1/givenName> "R"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-7af30b444ed47947f9b5587c791389cf> <http://xmlns.com/foaf/0.1/familyName> "Ekong"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-7af30b444ed47947f9b5587c791389cf> <http://xmlns.com/foaf/0.1/name> "R Ekong"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-9e53bbe0d6b69a1e6dc56e105b0cf423> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> . <https://discovery.ucl.ac.uk/id/person/ext-9e53bbe0d6b69a1e6dc56e105b0cf423> <http://xmlns.com/foaf/0.1/givenName> "S"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-9e53bbe0d6b69a1e6dc56e105b0cf423> <http://xmlns.com/foaf/0.1/familyName> "Povey"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-9e53bbe0d6b69a1e6dc56e105b0cf423> <http://xmlns.com/foaf/0.1/name> "S Povey"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-6bdc395b1727c29f60c20fb4eea28db8> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> . <https://discovery.ucl.ac.uk/id/person/ext-6bdc395b1727c29f60c20fb4eea28db8> <http://xmlns.com/foaf/0.1/givenName> "S"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-6bdc395b1727c29f60c20fb4eea28db8> <http://xmlns.com/foaf/0.1/familyName> "Nanhoe"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-6bdc395b1727c29f60c20fb4eea28db8> <http://xmlns.com/foaf/0.1/name> "S Nanhoe"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-00189662282e9b5d5ecf2f0782e53995> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> . <https://discovery.ucl.ac.uk/id/person/ext-00189662282e9b5d5ecf2f0782e53995> <http://xmlns.com/foaf/0.1/givenName> "R"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-00189662282e9b5d5ecf2f0782e53995> <http://xmlns.com/foaf/0.1/familyName> "Kom-Gortat"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-00189662282e9b5d5ecf2f0782e53995> <http://xmlns.com/foaf/0.1/name> "R Kom-Gortat"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-2608981e535bcf23a13f30d366c85574> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> . <https://discovery.ucl.ac.uk/id/person/ext-2608981e535bcf23a13f30d366c85574> <http://xmlns.com/foaf/0.1/givenName> "A"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-2608981e535bcf23a13f30d366c85574> <http://xmlns.com/foaf/0.1/familyName> "Zonta"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-2608981e535bcf23a13f30d366c85574> <http://xmlns.com/foaf/0.1/name> "A Zonta"^^<http://www.w3.org/2001/XMLSchema#string> . <https://discovery.ucl.ac.uk/id/person/ext-6f3b24ae20254cd3eeaca102fd0617bd> <http://www.w3.org/1999/02/22-rdf-syntax-ns#type> <http://xmlns.com/foaf/0.1/Person> . 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