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http://purl.uniprot.org/SHA-384/09B2A15A323F1BEDC7B76C3DD6A0C265B74DABC73D32EE47E97677DC0BB96D44A1285D2CA46A703228B406E5B0C4CBC4http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/09B2A15A323F1BEDC7B76C3DD6A0C265B74DABC73D32EE47E97677DC0BB96D44A1285D2CA46A703228B406E5B0C4CBC4http://www.w3.org/2000/01/rdf-schema#comment"We identified a missense variant in CLN5 c.A959G (p.Asn320Ser) that segregated with Alzheimer's disease. We find that this variant causes glycosylation defects in the expressed protein which causes it to be retained in the endoplasmic reticulum with reduced delivery to the endolysosomal compartment CLN5's normal cellular location."xsd:string
http://purl.uniprot.org/uniprot/#_10BA28E5241A4F6CCE9858CB53397A1C2E871225CCD7E85B2FB522004186F8D07FE05AD28B019438351105E4F150D0E1http://www.w3.org/1999/02/22-rdf-syntax-ns#subjecthttp://purl.uniprot.org/SHA-384/09B2A15A323F1BEDC7B76C3DD6A0C265B74DABC73D32EE47E97677DC0BB96D44A1285D2CA46A703228B406E5B0C4CBC4
http://purl.uniprot.org/uniprot/O75503http://purl.uniprot.org/core/mappedAnnotationhttp://purl.uniprot.org/SHA-384/09B2A15A323F1BEDC7B76C3DD6A0C265B74DABC73D32EE47E97677DC0BB96D44A1285D2CA46A703228B406E5B0C4CBC4
http://purl.uniprot.org/uniprot/#_O75503-mappedCitation-30037983http://purl.uniprot.org/core/mappedAnnotationhttp://purl.uniprot.org/SHA-384/09B2A15A323F1BEDC7B76C3DD6A0C265B74DABC73D32EE47E97677DC0BB96D44A1285D2CA46A703228B406E5B0C4CBC4