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DESCRIBE <http://purl.uniprot.org/SHA-384/3588D298C1232E52249C1C249744EEF467FE8DFADB5ABDF01DCE5FB0F0585400C9E1246D1C2BAFF74A65C37042D1B560>
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http://purl.uniprot.org/SHA-384/3588D298C1232E52249C1C249744EEF467FE8DFADB5ABDF01DCE5FB0F0585400C9E1246D1C2BAFF74A65C37042D1B560
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/3588D298C1232E52249C1C249744EEF467FE8DFADB5ABDF01DCE5FB0F0585400C9E1246D1C2BAFF74A65C37042D1B560
http://www.w3.org/2000/01/rdf-schema#comment
"Nonsense variants in REEP1 causing haploinsufficiency/loss of function are responsible for autosomal dominant hereditary spastic paraplegia (HSP)-type SPG31."
xsd:string
http://purl.uniprot.org/uniprot/#_365055A99D7BE12215257614E259A23F775D04349E69A401BEFE8FA285FFE62208D1474D51C7C7D69EE3C08BFFD7DA4D
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/3588D298C1232E52249C1C249744EEF467FE8DFADB5ABDF01DCE5FB0F0585400C9E1246D1C2BAFF74A65C37042D1B560
http://purl.uniprot.org/uniprot/Q9H902
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/3588D298C1232E52249C1C249744EEF467FE8DFADB5ABDF01DCE5FB0F0585400C9E1246D1C2BAFF74A65C37042D1B560
http://purl.uniprot.org/uniprot/#_Q9H902-mappedCitation-24986827
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/3588D298C1232E52249C1C249744EEF467FE8DFADB5ABDF01DCE5FB0F0585400C9E1246D1C2BAFF74A65C37042D1B560