SPARQL
Downloads
Documentation/Help
Skip Header
Results
Your Query
Add common prefixes
DESCRIBE <http://purl.uniprot.org/SHA-384/27980767B9444FA46788EB4C75C131F539E99BCDCE02B1D0E29764B2228BDE00284E5173D05A3D80F6307BE814528C5C>
Submit Query
Cancel
RDF/XML
NTriples
Turtle
Show query
Share
Subject
Predicate
Object
http://purl.uniprot.org/SHA-384/27980767B9444FA46788EB4C75C131F539E99BCDCE02B1D0E29764B2228BDE00284E5173D05A3D80F6307BE814528C5C
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/27980767B9444FA46788EB4C75C131F539E99BCDCE02B1D0E29764B2228BDE00284E5173D05A3D80F6307BE814528C5C
http://www.w3.org/2000/01/rdf-schema#comment
"A novel homozygous missense mutation c.699C>A (p.His231Gln) in exon 4 of ARSA gene was identified in the three metachromatic leukodystrophy patients inherited from their heterozygous parents."
xsd:string
http://purl.uniprot.org/uniprot/#_33C1740D65B3B39F73A3A172CDEE4B6260C8D9F8052ADF380CB4B754C6B3FD95FC4326453F6C3159980436CDA049C7F2
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/27980767B9444FA46788EB4C75C131F539E99BCDCE02B1D0E29764B2228BDE00284E5173D05A3D80F6307BE814528C5C
http://purl.uniprot.org/uniprot/A0A0C4DFZ2
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/27980767B9444FA46788EB4C75C131F539E99BCDCE02B1D0E29764B2228BDE00284E5173D05A3D80F6307BE814528C5C
http://purl.uniprot.org/uniprot/#_A0A0C4DFZ2-mappedCitation-30083785
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/27980767B9444FA46788EB4C75C131F539E99BCDCE02B1D0E29764B2228BDE00284E5173D05A3D80F6307BE814528C5C