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Literature summary extracted from

  • Koster, K.L.; Sturm, M.; Herebian, D.; Smits, S.H.; Spiekerkoetter, U.
    Functional studies of 18 heterologously expressed medium-chain acyl-CoA dehydrogenase (MCAD) variants (2014), J. Inherit. Metab. Dis., 37, 917-928 .
    View publication on PubMed

Application

EC Number Application Comment Organism
1.3.8.7 medicine cloning and functional characterization of mutations with unknown clinical relevance identified in asymptomatic newborns. Eighteen of these mutations were separately cloned into the human ACADM and functionally characterized Homo sapiens

Cloned(Commentary)

EC Number Cloned (Comment) Organism
1.3.8.7 expression in Escherichia coli Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
1.3.8.7 A293E less than 5% residual octanoyl-CoA oxidation activity Homo sapiens
1.3.8.7 D221N less than 5% residual octanoyl-CoA oxidation activity Homo sapiens
1.3.8.7 D320Y less than 5% residual octanoyl-CoA oxidation activity Homo sapiens
1.3.8.7 delT125, E126 less than 5% residual octanoyl-CoA oxidation activity Homo sapiens
1.3.8.7 E18K about 47% residual octanoyl-CoA oxidation activity Homo sapiens
1.3.8.7 F194S less than 5% residual octanoyl-CoA oxidation activity Homo sapiens
1.3.8.7 G242R less than 5% residual octanoyl-CoA oxidation activity Homo sapiens
1.3.8.7 I208T about 5% residual octanoyl-CoA oxidation activity Homo sapiens
1.3.8.7 K153T less than 5% residual octanoyl-CoA oxidation activity Homo sapiens
1.3.8.7 K276X less than 5% residual octanoyl-CoA oxidation activity Homo sapiens
1.3.8.7 K304E less than 5% residual octanoyl-CoA oxidation activity Homo sapiens
1.3.8.7 M303V less than 5% residual octanoyl-CoA oxidation activity Homo sapiens
1.3.8.7 N354K about 8% residual octanoyl-CoA oxidation activity Homo sapiens
1.3.8.7 R6H about 45% residual octanoyl-CoA oxidation activity Homo sapiens
1.3.8.7 V247A less than 5% residual octanoyl-CoA oxidation activity Homo sapiens
1.3.8.7 Y312S about 8% residual octanoyl-CoA oxidation activity Homo sapiens
1.3.8.7 Y394X less than 5% residual octanoyl-CoA oxidation activity Homo sapiens
1.3.8.7 Y42H about 22% residual octanoyl-CoA oxidation activity Homo sapiens

Organism

EC Number Organism UniProt Comment Textmining
1.3.8.7 Homo sapiens P11310
-
-

Temperature Stability [°C]

EC Number Temperature Stability Minimum [°C] Temperature Stability Maximum [°C] Comment Organism
1.3.8.7 37
-
 60 min, bout 20% resudal activity Homo sapiens
1.3.8.7 41
-
 30 min, bout 20% resudal activity Homo sapiens