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DESCRIBE <http://purl.uniprot.org/SHA-384/CAD4E888B46CC06B84B1F3EA6A9D6B23C040285AF3731E897C45ED672CDC818B4174787F7E6321E68C1D0972984FD40E>
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http://purl.uniprot.org/SHA-384/CAD4E888B46CC06B84B1F3EA6A9D6B23C040285AF3731E897C45ED672CDC818B4174787F7E6321E68C1D0972984FD40E
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/CAD4E888B46CC06B84B1F3EA6A9D6B23C040285AF3731E897C45ED672CDC818B4174787F7E6321E68C1D0972984FD40E
http://www.w3.org/2000/01/rdf-schema#comment
"MC2R mutations were found in patients diagnosed with salt-losing forms of adrenal hypoplasia; these changes represent severely disruptive loss-of-function mutations including the first reported homozygous frameshift mutation"
xsd:string
http://purl.uniprot.org/uniprot/#_92AFA5CB3FF889142019FEDFAA35C36CC917995D27FBA66FF06281D6352BB40EEA1C2E66B01B49CB708AB9B11CF01E94
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/CAD4E888B46CC06B84B1F3EA6A9D6B23C040285AF3731E897C45ED672CDC818B4174787F7E6321E68C1D0972984FD40E
http://purl.uniprot.org/uniprot/Q01718
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/CAD4E888B46CC06B84B1F3EA6A9D6B23C040285AF3731E897C45ED672CDC818B4174787F7E6321E68C1D0972984FD40E
http://purl.uniprot.org/uniprot/#_Q01718-mappedCitation-17223989
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/CAD4E888B46CC06B84B1F3EA6A9D6B23C040285AF3731E897C45ED672CDC818B4174787F7E6321E68C1D0972984FD40E