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DESCRIBE <http://purl.uniprot.org/SHA-384/81444874F26A4EE91330A9E65A17F3C15193D18360DEA6DF234B264EE5CC41DD1A4B4F2B4F7F9072EFE8093F7631AEF3>
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http://purl.uniprot.org/SHA-384/81444874F26A4EE91330A9E65A17F3C15193D18360DEA6DF234B264EE5CC41DD1A4B4F2B4F7F9072EFE8093F7631AEF3
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/81444874F26A4EE91330A9E65A17F3C15193D18360DEA6DF234B264EE5CC41DD1A4B4F2B4F7F9072EFE8093F7631AEF3
http://www.w3.org/2000/01/rdf-schema#comment
"Four pathogenic mutations including a novel in-frame 15-bp tandem duplication (806-820) in exon 8 and a novel 751+1G>A splice site mutation in SURF1 in three cases of Leigh Syndrome with cytochrome c oxidase deficiency"
xsd:string
http://purl.uniprot.org/uniprot/#_9EB196CFB246553E65FC2188AC143E0A9268F2E36A23B4CABB85C450861532D19A94EA3EEC23A73BAE943F82D7DC45CF
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/81444874F26A4EE91330A9E65A17F3C15193D18360DEA6DF234B264EE5CC41DD1A4B4F2B4F7F9072EFE8093F7631AEF3
http://purl.uniprot.org/uniprot/Q15526
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/81444874F26A4EE91330A9E65A17F3C15193D18360DEA6DF234B264EE5CC41DD1A4B4F2B4F7F9072EFE8093F7631AEF3
http://purl.uniprot.org/uniprot/#_Q15526-mappedCitation-14557577
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/81444874F26A4EE91330A9E65A17F3C15193D18360DEA6DF234B264EE5CC41DD1A4B4F2B4F7F9072EFE8093F7631AEF3