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DESCRIBE <http://purl.uniprot.org/SHA-384/5BB0EED65E7DCE5B004DA002B87BFE7624EE36E7A3A8E50BBAFFF857AC58A55F53D108B140420E4ADF190867148BB62D>
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http://purl.uniprot.org/SHA-384/5BB0EED65E7DCE5B004DA002B87BFE7624EE36E7A3A8E50BBAFFF857AC58A55F53D108B140420E4ADF190867148BB62D
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/5BB0EED65E7DCE5B004DA002B87BFE7624EE36E7A3A8E50BBAFFF857AC58A55F53D108B140420E4ADF190867148BB62D
http://www.w3.org/2000/01/rdf-schema#comment
"the A467T and W748S POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection. Epilepsy was present in 76% of all patients with these two mutations."
xsd:string
http://purl.uniprot.org/uniprot/#_831AD9392F22C18CD6A27FBC13CE9171FE71FBA643C55DAF38290E68E88A7328A380FFB8C7041D43150EC0C8775FD79C
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/5BB0EED65E7DCE5B004DA002B87BFE7624EE36E7A3A8E50BBAFFF857AC58A55F53D108B140420E4ADF190867148BB62D
http://purl.uniprot.org/uniprot/A0A3G6VDX6
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/5BB0EED65E7DCE5B004DA002B87BFE7624EE36E7A3A8E50BBAFFF857AC58A55F53D108B140420E4ADF190867148BB62D
http://purl.uniprot.org/uniprot/#_A0A3G6VDX6-mappedCitation-18238797
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/5BB0EED65E7DCE5B004DA002B87BFE7624EE36E7A3A8E50BBAFFF857AC58A55F53D108B140420E4ADF190867148BB62D