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DESCRIBE <http://purl.uniprot.org/SHA-384/C1C270D9394B042097D029F471581A5221AE7741F7048BE79AAABD583992BBEA2809C87FDABD805CD1B20E609940DCEF>
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http://purl.uniprot.org/SHA-384/C1C270D9394B042097D029F471581A5221AE7741F7048BE79AAABD583992BBEA2809C87FDABD805CD1B20E609940DCEF
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/C1C270D9394B042097D029F471581A5221AE7741F7048BE79AAABD583992BBEA2809C87FDABD805CD1B20E609940DCEF
http://www.w3.org/2000/01/rdf-schema#comment
"Pathogenic mutations in TULP1 are responsible for the retinitis pigmentosa phenotype in seven familial cases with a common ancestral mutation responsible for the disease phenotype in four of the seven families."
xsd:string
http://purl.uniprot.org/uniprot/#_55107074DF502D774C513781BF9BE995470E57C83D5DE76EA8296D3CF9167C7FD6A17DE61F39E7D19BC5F6DDB5440881
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/C1C270D9394B042097D029F471581A5221AE7741F7048BE79AAABD583992BBEA2809C87FDABD805CD1B20E609940DCEF
http://purl.uniprot.org/uniprot/Q0QD38
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/C1C270D9394B042097D029F471581A5221AE7741F7048BE79AAABD583992BBEA2809C87FDABD805CD1B20E609940DCEF
http://purl.uniprot.org/uniprot/#_Q0QD38-mappedCitation-27440997
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/C1C270D9394B042097D029F471581A5221AE7741F7048BE79AAABD583992BBEA2809C87FDABD805CD1B20E609940DCEF