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DESCRIBE <http://purl.uniprot.org/SHA-384/5386554F77E46CEC16104563E2F9201BF7487EE651CD1C89CE57B999FB071CDE87E7D8B7014E5D5E0E6BFE55C97D9558>
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http://purl.uniprot.org/SHA-384/5386554F77E46CEC16104563E2F9201BF7487EE651CD1C89CE57B999FB071CDE87E7D8B7014E5D5E0E6BFE55C97D9558
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/5386554F77E46CEC16104563E2F9201BF7487EE651CD1C89CE57B999FB071CDE87E7D8B7014E5D5E0E6BFE55C97D9558
http://www.w3.org/2000/01/rdf-schema#comment
"Findings and the iron overload phenotype of the patient suggest that the novel mutation c.386T>C (p.L129P) in the SLC40A1 gene has incomplete penetrance and causes the classical form of ferroportin disease."
xsd:string
http://purl.uniprot.org/uniprot/#_FDCBF3A12580CD6EA19814184A08D52A70D1ABF18A2D3AB0F7138A5DB8D2E04C89BAC718A5FF1C78BE9060F8C6F9E11D
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/5386554F77E46CEC16104563E2F9201BF7487EE651CD1C89CE57B999FB071CDE87E7D8B7014E5D5E0E6BFE55C97D9558
http://purl.uniprot.org/uniprot/Q9NP59
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/5386554F77E46CEC16104563E2F9201BF7487EE651CD1C89CE57B999FB071CDE87E7D8B7014E5D5E0E6BFE55C97D9558
http://purl.uniprot.org/uniprot/#_Q9NP59-mappedCitation-24644245
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/5386554F77E46CEC16104563E2F9201BF7487EE651CD1C89CE57B999FB071CDE87E7D8B7014E5D5E0E6BFE55C97D9558