dgn-np:NP1742.RA8lceswl-T0EkaUMgpKVbnfQCLgJNbnh1rbb-O87vcl8130_provenance {
  dgn-np:NP1742.RA8lceswl-T0EkaUMgpKVbnfQCLgJNbnh1rbb-O87vcl8130_assertion dcterms:description "[Expression of the variant R147W SCAD protein, encoded by the 511T-625G allele, in COS-7 cells showed 45% activity at 37 degrees C in comparison with the wild-type protein, comparable levels of activity at 26 degrees C, and 13% activity when incubated at 41 degrees C. This temperature profile is different from that observed for the variant G185S SCAD protein, encoded by the 511C-625A allele, where higher than normal activity was found at 26 and 37 degrees C, and 58% activity was present at 41 degrees C. These results corroborate the notion that the 511C-625A variant allele is one of the possible underlying causes of ethylmalonic aciduria, and suggest that the 511C-->T mutation represents a second susceptibility variation in the SCAD gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
    wi:evidence dgn-void:source_evidence_curated ;
    sio:SIO_000772 miriam-pubmed:9499414 ;
    prov:wasDerivedFrom dgn-void:uniprot-20150221 ;
    prov:wasGeneratedBy eco:ECO_0000218 .
  dgn-void:source_evidence_curated a eco:ECO_0000205 ;
    rdfs:comment "Gene-disease associations manually curated."@en ;
    rdfs:label "DisGeNET evidence - CURATED"@en .
  dgn-void:uniprot-20150221 pav:importedOn "2015-02-21"^^xsd:date .
}