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Literature summary extracted from

  • Nichols, M.J.; Saavedra-Matiz, C.A.; Pass, K.A.; Caggana, M.
    Novel mutations causing medium chain acyl-CoA dehydrogenase deficiency: under-representation of the common c.985 A > G mutation in the New York state population (2008), Am. J. Med. Genet. A, 146A, 610-619.
    View publication on PubMed

Protein Variants

EC Number Protein Variants Comment Organism
1.3.8.7 A151T the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency Homo sapiens
1.3.8.7 A31P the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency Homo sapiens
1.3.8.7 D79X the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency Homo sapiens
1.3.8.7 E18K the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency Homo sapiens
1.3.8.7 G170R the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency Homo sapiens
1.3.8.7 G285R the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency Homo sapiens
1.3.8.7 K304E the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency Homo sapiens
1.3.8.7 L59F the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency Homo sapiens
1.3.8.7 L73DELTA the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency Homo sapiens
1.3.8.7 N169D the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency Homo sapiens
1.3.8.7 P128X the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency Homo sapiens
1.3.8.7 Q20R the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency Homo sapiens
1.3.8.7 R123K the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency Homo sapiens
1.3.8.7 R256S the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency Homo sapiens
1.3.8.7 T92T the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency Homo sapiens
1.3.8.7 T96I the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency Homo sapiens
1.3.8.7 V362V the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency Homo sapiens
1.3.8.7 Y42H the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency Homo sapiens

Organism

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

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
1.3.8.7 acyl-CoA + acceptor
-
 Homo sapiens 2,3-dehydroacyl-CoA + reduced acceptor
-
 ?

Synonyms

EC Number Synonyms Comment Organism
1.3.8.7 MCAD
-
 Homo sapiens
1.3.8.7 medium chain acyl-CoA dehydrogenase
-
 Homo sapiens