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DESCRIBE <http://purl.uniprot.org/SHA-384/80B222A0AEF442AE1C8E18D9753BAD00B47F1532C7425D5321D673D0448BBF876EAEA0EE1BE8FF1F885F670D96EF0CA1>
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http://purl.uniprot.org/SHA-384/80B222A0AEF442AE1C8E18D9753BAD00B47F1532C7425D5321D673D0448BBF876EAEA0EE1BE8FF1F885F670D96EF0CA1
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/80B222A0AEF442AE1C8E18D9753BAD00B47F1532C7425D5321D673D0448BBF876EAEA0EE1BE8FF1F885F670D96EF0CA1
http://www.w3.org/2000/01/rdf-schema#comment
"All familial periodic paralysis patients studied have mutations in either CACNA1S or SCN4A but only 4 sporadic periodic paralysis patients have de novo mutations in CACNA1S (R1239H) and SCN4A (R669x2 R1135H)."
xsd:string
http://purl.uniprot.org/uniprot/#_25DD0A92657E3A2ECABC9A5B8C2B68C64A4842186827D8B7C434593290429ACCEA9D7B56357E9213896B1BA4743FB794
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/80B222A0AEF442AE1C8E18D9753BAD00B47F1532C7425D5321D673D0448BBF876EAEA0EE1BE8FF1F885F670D96EF0CA1
http://purl.uniprot.org/uniprot/Q13698
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/80B222A0AEF442AE1C8E18D9753BAD00B47F1532C7425D5321D673D0448BBF876EAEA0EE1BE8FF1F885F670D96EF0CA1
http://purl.uniprot.org/uniprot/#_Q13698-mappedCitation-21841462
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/80B222A0AEF442AE1C8E18D9753BAD00B47F1532C7425D5321D673D0448BBF876EAEA0EE1BE8FF1F885F670D96EF0CA1