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DESCRIBE <http://purl.uniprot.org/SHA-384/08456D1697DBE5CE3336BC2C1B26EEE36DDF3B28E0DE6FF8BF1A7127245D08DD64F8A3EE6DDA3D2F22052E7591AA6C37>
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http://purl.uniprot.org/SHA-384/08456D1697DBE5CE3336BC2C1B26EEE36DDF3B28E0DE6FF8BF1A7127245D08DD64F8A3EE6DDA3D2F22052E7591AA6C37
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/08456D1697DBE5CE3336BC2C1B26EEE36DDF3B28E0DE6FF8BF1A7127245D08DD64F8A3EE6DDA3D2F22052E7591AA6C37
http://www.w3.org/2000/01/rdf-schema#comment
"The c.966_967delAA (p.Arg323Thr fs*11) deletional mutation of the RPS6KA3 gene probably underlies Coffin-Lowry syndrome in this Chinese pedigree."
xsd:string
http://purl.uniprot.org/uniprot/#_31DB3399869C4FD3DB5C5B81B8A48186917F227ED7006BC1DA6363297EBA445C56773A8D49319DFB81A5CE288D2919C6
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/08456D1697DBE5CE3336BC2C1B26EEE36DDF3B28E0DE6FF8BF1A7127245D08DD64F8A3EE6DDA3D2F22052E7591AA6C37
http://purl.uniprot.org/uniprot/Q8TDJ4
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/08456D1697DBE5CE3336BC2C1B26EEE36DDF3B28E0DE6FF8BF1A7127245D08DD64F8A3EE6DDA3D2F22052E7591AA6C37
http://purl.uniprot.org/uniprot/#_Q8TDJ4-mappedCitation-31400131
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/08456D1697DBE5CE3336BC2C1B26EEE36DDF3B28E0DE6FF8BF1A7127245D08DD64F8A3EE6DDA3D2F22052E7591AA6C37