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DESCRIBE <http://purl.uniprot.org/annotation/VAR_078434>
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http://purl.uniprot.org/annotation/VAR_078434
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_078434
http://www.w3.org/2000/01/rdf-schema#comment
"In NEDMAS; impaired serine-activation of enzyme resulting in a significant decrease in the first step of the aminoacylation reaction; reduced protein stability; reduced protein expression."
xsd:string
http://purl.uniprot.org/annotation/VAR_078434
http://www.w3.org/2000/01/rdf-schema#seeAlso
http://purl.uniprot.org/dbsnp/rs1553178049
http://purl.uniprot.org/annotation/VAR_078434
http://purl.uniprot.org/core/range
http://purl.uniprot.org/range/22575418447573294tt172tt172
http://purl.uniprot.org/annotation/VAR_078434
http://www.w3.org/2004/02/skos/core#related
http://purl.uniprot.org/diseases/5110
http://purl.uniprot.org/annotation/VAR_078434
http://purl.uniprot.org/core/substitution
"N"
xsd:string
http://purl.uniprot.org/uniprot/P49591
http://purl.uniprot.org/core/annotation
http://purl.uniprot.org/annotation/VAR_078434
http://purl.uniprot.org/uniprot/#_kb.P49591_up.annotation_a.VAR_078434
http://www.w3.org/1999/02/22-rdf-syntax-ns#object
http://purl.uniprot.org/annotation/VAR_078434