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DESCRIBE <http://purl.uniprot.org/SHA-384/F7137BA6CB5DA0393999A758E783F99FE34D04A662B52F697BD286830BA92B803B37CB02FAD0276E801176A6F79F0E14>
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http://purl.uniprot.org/SHA-384/F7137BA6CB5DA0393999A758E783F99FE34D04A662B52F697BD286830BA92B803B37CB02FAD0276E801176A6F79F0E14
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/F7137BA6CB5DA0393999A758E783F99FE34D04A662B52F697BD286830BA92B803B37CB02FAD0276E801176A6F79F0E14
http://www.w3.org/2000/01/rdf-schema#comment
"A novel heterozygous mutation (c.2013G>A; p.R638H) of MANBA was identified in patients with autosomal-dominant nystagmus. An additional mutation (c.2346T>A; p.L749H) in MANBA was found by screening patients with sporadic nystagmus."
xsd:string
http://purl.uniprot.org/uniprot/#_450B54A5288A5A6FF0F38864B0C35775F26936BAB872FAD7D8FE1E931C718445B38391A11546BAA5AEF1C7386202E250
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/F7137BA6CB5DA0393999A758E783F99FE34D04A662B52F697BD286830BA92B803B37CB02FAD0276E801176A6F79F0E14
http://purl.uniprot.org/uniprot/B4E0K9
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/F7137BA6CB5DA0393999A758E783F99FE34D04A662B52F697BD286830BA92B803B37CB02FAD0276E801176A6F79F0E14
http://purl.uniprot.org/uniprot/#_B4E0K9-mappedCitation-25741867
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/F7137BA6CB5DA0393999A758E783F99FE34D04A662B52F697BD286830BA92B803B37CB02FAD0276E801176A6F79F0E14