@prefix this: . @prefix sub: . @prefix beldoc: . @prefix rdfs: . @prefix rdf: . @prefix xsd: . @prefix dct: . @prefix dce: . @prefix pav: . @prefix np: . @prefix belv: . @prefix prov: . @prefix hgnc: . @prefix proteinModification: . @prefix go: . @prefix Protein: . @prefix geneProductOf: . @prefix hasAgent: . @prefix do: . @prefix occursIn: . @prefix species: . @prefix pubmed: . @prefix orcid: . sub:Head { this: np:hasAssertion sub:assertion; np:hasProvenance sub:provenance; np:hasPublicationInfo sub:pubinfo; a np:Nanopublication . } sub:assertion { sub:_1 belv:hasSubstitution "N,841,H"; belv:variantOf hgnc:3765; a proteinModification: . sub:_2 hasAgent: sub:_3; a go:0016301 . sub:_3 geneProductOf: hgnc:3765; a Protein: . sub:_4 occursIn: do:9119, species:9606; rdf:object sub:_2; rdf:predicate belv:directlyIncreases; rdf:subject sub:_1; a rdf:Statement . sub:assertion rdfs:label "p(HGNC:FLT3,sub(N,841,H)) => kin(p(HGNC:FLT3))" . } sub:provenance { beldoc: dce:description "Approximately 61,000 statements."; dce:rights "Copyright (c) 2011-2012, Selventa. All rights reserved."; dce:title "BEL Framework Large Corpus Document"; pav:authoredBy sub:_6; pav:version "20131211" . sub:_5 prov:value "The first mutation, N841 H, is similar to previously described mutations involving amino-acid substitutions of codon 841. The other novel mutation, FLT3 K663Q, is the first AML-associated gain-of-function mutation located outside the JM and AL domains. Of note, this mutation was potently inhibited by Sunitinib (SU11248), a previously described FLT3 kinase inhibitor.Somatic mutations of FLT3 resulting in constitutive kinase activation are the most common acquired genomic abnormality found in acute myeloid leukemia (AML). The majority of these mutations are internal tandem duplications (ITD) of the juxtamembrane region (JM). In addition, a minority of cases of AML are associated with mutation of the FLT3 activation loop (AL), typically involving codons D835 and/or I836."; prov:wasQuotedFrom pubmed:16990784 . sub:_6 rdfs:label "Selventa" . sub:assertion prov:hadPrimarySource pubmed:16990784; prov:wasDerivedFrom beldoc:, sub:_5 . } sub:pubinfo { this: dct:created "2014-07-03T14:33:03.538+02:00"^^xsd:dateTime; pav:createdBy orcid:0000-0001-6818-334X, orcid:0000-0002-1267-0234 . }