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DESCRIBE <http://purl.uniprot.org/annotation/VAR_081265>
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http://purl.uniprot.org/annotation/VAR_081265
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Natural_Variant_Annotation
http://purl.uniprot.org/annotation/VAR_081265
http://www.w3.org/2000/01/rdf-schema#comment
"In CONDSIAS; severely reduced protein levels in patient fibroblasts; decreased stability and reduced Tm; reduced alpha-helix content and altered secondary structure detected by circular dichroism spectroscopy."
xsd:string
http://purl.uniprot.org/annotation/VAR_081265
http://www.w3.org/2000/01/rdf-schema#seeAlso
http://purl.uniprot.org/dbsnp/rs1557733311
http://purl.uniprot.org/annotation/VAR_081265
http://purl.uniprot.org/core/range
http://purl.uniprot.org/range/22862481763612206tt79tt79
http://purl.uniprot.org/annotation/VAR_081265
http://www.w3.org/2004/02/skos/core#related
http://purl.uniprot.org/diseases/5374
http://purl.uniprot.org/annotation/VAR_081265
http://purl.uniprot.org/core/substitution
"P"
xsd:string
http://purl.uniprot.org/uniprot/Q9NX46
http://purl.uniprot.org/core/annotation
http://purl.uniprot.org/annotation/VAR_081265
http://purl.uniprot.org/uniprot/#_kb.Q9NX46_up.annotation_a.VAR_081265
http://www.w3.org/1999/02/22-rdf-syntax-ns#object
http://purl.uniprot.org/annotation/VAR_081265