Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1742.RA8lceswl-T0EkaUMgpKVbnfQCLgJNbnh1rbb-O87vcl8130_assertion> ?p ?o ?g. }
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- NP1742.RA8lceswl-T0EkaUMgpKVbnfQCLgJNbnh1rbb-O87vcl8130_assertion type Assertion NP1742.RA8lceswl-T0EkaUMgpKVbnfQCLgJNbnh1rbb-O87vcl8130_head.
- NP1742.RA8lceswl-T0EkaUMgpKVbnfQCLgJNbnh1rbb-O87vcl8130_assertion 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." NP1742.RA8lceswl-T0EkaUMgpKVbnfQCLgJNbnh1rbb-O87vcl8130_provenance.
- NP1742.RA8lceswl-T0EkaUMgpKVbnfQCLgJNbnh1rbb-O87vcl8130_assertion evidence source_evidence_curated NP1742.RA8lceswl-T0EkaUMgpKVbnfQCLgJNbnh1rbb-O87vcl8130_provenance.
- NP1742.RA8lceswl-T0EkaUMgpKVbnfQCLgJNbnh1rbb-O87vcl8130_assertion SIO_000772 9499414 NP1742.RA8lceswl-T0EkaUMgpKVbnfQCLgJNbnh1rbb-O87vcl8130_provenance.
- NP1742.RA8lceswl-T0EkaUMgpKVbnfQCLgJNbnh1rbb-O87vcl8130_assertion wasDerivedFrom uniprot-20150221 NP1742.RA8lceswl-T0EkaUMgpKVbnfQCLgJNbnh1rbb-O87vcl8130_provenance.
- NP1742.RA8lceswl-T0EkaUMgpKVbnfQCLgJNbnh1rbb-O87vcl8130_assertion wasGeneratedBy ECO_0000218 NP1742.RA8lceswl-T0EkaUMgpKVbnfQCLgJNbnh1rbb-O87vcl8130_provenance.