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DESCRIBE <http://purl.uniprot.org/SHA-384/DF65869E61B7B11D2965A76D38C4E73FD63E32769074D4F7DE09945DC0DBF983DF46D5D5E5E73CAC65458FA9D3E6038D>
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http://purl.uniprot.org/SHA-384/DF65869E61B7B11D2965A76D38C4E73FD63E32769074D4F7DE09945DC0DBF983DF46D5D5E5E73CAC65458FA9D3E6038D
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/DF65869E61B7B11D2965A76D38C4E73FD63E32769074D4F7DE09945DC0DBF983DF46D5D5E5E73CAC65458FA9D3E6038D
http://www.w3.org/2000/01/rdf-schema#comment
"A FKRP point mutation L276I has been found in all patients with LGMD2I studied so far. The authors screened for this mutation in 102 sporadic cases of Duchenne/Becker mutation-negative patients and found 13 patients with LGMD2I."
xsd:string
http://purl.uniprot.org/uniprot/#_9D7EFACC8602C53512442145537F98041B3B46149A404921CD3F4B77CD62194A8CA2F08F77190C270A321AB9AA0B21C7
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/DF65869E61B7B11D2965A76D38C4E73FD63E32769074D4F7DE09945DC0DBF983DF46D5D5E5E73CAC65458FA9D3E6038D
http://purl.uniprot.org/uniprot/Q9H9S5
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/DF65869E61B7B11D2965A76D38C4E73FD63E32769074D4F7DE09945DC0DBF983DF46D5D5E5E73CAC65458FA9D3E6038D
http://purl.uniprot.org/uniprot/#_Q9H9S5-mappedCitation-15883334
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/DF65869E61B7B11D2965A76D38C4E73FD63E32769074D4F7DE09945DC0DBF983DF46D5D5E5E73CAC65458FA9D3E6038D