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DESCRIBE <http://purl.uniprot.org/SHA-384/1E1FAA60598E2FC1F579D117F88B30389C944731BCB82DC4238A19F12EBADA57B1A2FF905F3C9D8C1857B1E0AC3B0DC5>
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http://purl.uniprot.org/SHA-384/1E1FAA60598E2FC1F579D117F88B30389C944731BCB82DC4238A19F12EBADA57B1A2FF905F3C9D8C1857B1E0AC3B0DC5
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/1E1FAA60598E2FC1F579D117F88B30389C944731BCB82DC4238A19F12EBADA57B1A2FF905F3C9D8C1857B1E0AC3B0DC5
http://www.w3.org/2000/01/rdf-schema#comment
"A rare de novo mutation K78E is associated with severe syndromic intellectual disability and epilepsy."
xsd:string
http://purl.uniprot.org/uniprot/#_A3489511245E13E6F9132B342CD9E3826D04E34F7EADA22DDECCC9ABB47D791B180659C4C844380E89F88A745D4852A1
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/1E1FAA60598E2FC1F579D117F88B30389C944731BCB82DC4238A19F12EBADA57B1A2FF905F3C9D8C1857B1E0AC3B0DC5
http://purl.uniprot.org/uniprot/X5D2T3
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/1E1FAA60598E2FC1F579D117F88B30389C944731BCB82DC4238A19F12EBADA57B1A2FF905F3C9D8C1857B1E0AC3B0DC5
http://purl.uniprot.org/uniprot/#_X5D2T3-mappedCitation-29066376
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/1E1FAA60598E2FC1F579D117F88B30389C944731BCB82DC4238A19F12EBADA57B1A2FF905F3C9D8C1857B1E0AC3B0DC5