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DESCRIBE <http://purl.uniprot.org/SHA-384/503681D654C8699EBB3B2EFC34EA520AF3DDDEE79034A57CC425F02D297821A1B6B07A5B3DD72934C0729FD6CC037005>
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http://purl.uniprot.org/SHA-384/503681D654C8699EBB3B2EFC34EA520AF3DDDEE79034A57CC425F02D297821A1B6B07A5B3DD72934C0729FD6CC037005
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/503681D654C8699EBB3B2EFC34EA520AF3DDDEE79034A57CC425F02D297821A1B6B07A5B3DD72934C0729FD6CC037005
http://www.w3.org/2000/01/rdf-schema#comment
"Novel ATP1A2 mutations were found in two of the 20 families (10%). The p.Gly900Arg mutation was present in a family with epilepsy and FHM and the p.Cys702Tyr mutation occurred in a family with occipitotemporal epilepsy and migraine ."
xsd:string
http://purl.uniprot.org/uniprot/#_E098C6D2288D0733C43F71E5856E24624B5C2BA38A670B95C09EDC7C46F0829F9AB5025F06F317538AFBC30DB5740D71
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/503681D654C8699EBB3B2EFC34EA520AF3DDDEE79034A57CC425F02D297821A1B6B07A5B3DD72934C0729FD6CC037005
http://purl.uniprot.org/uniprot/B4DIQ8
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/503681D654C8699EBB3B2EFC34EA520AF3DDDEE79034A57CC425F02D297821A1B6B07A5B3DD72934C0729FD6CC037005
http://purl.uniprot.org/uniprot/#_B4DIQ8-mappedCitation-18028407
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/503681D654C8699EBB3B2EFC34EA520AF3DDDEE79034A57CC425F02D297821A1B6B07A5B3DD72934C0729FD6CC037005