1.3.8.4: isovaleryl-CoA dehydrogenase

This is an abbreviated version!
For detailed information about isovaleryl-CoA dehydrogenase, go to the full flat file.

Word Map on EC 1.3.8.4

Reaction

isovaleryl-CoA
+
electron-transfer flavoprotein
=
3-methylcrotonyl-CoA
+
reduced electron-transfer flavoprotein

Synonyms

acyl-CoA dehydrogenase, i3VD, iso(3)valeryl-CoA dehydrogenase, isovaleric-CoA dehydrogenase, isovaleroyl-coenzyme A dehydrogenase, isovaleryl-coenzyme A dehydrogenase, IVD, IVDH, LiuA, SBCAD, short/branched chain acyl-CoA dehydrogenase

ECTree

     1 Oxidoreductases
         1.3 Acting on the CH-CH group of donors
             1.3.8 With a flavin as acceptor
                1.3.8.4 isovaleryl-CoA dehydrogenase

Engineering

Engineering on EC 1.3.8.4 - isovaleryl-CoA dehydrogenase

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PROTEIN VARIANTS
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
G376V
A282V
B40N
-
has no detectable enzymatic activity
C30Y
-
isovaleric acidemia is a rare recessive autosomal disorder, caused by isovaleryl-CoA dehydrogenase (IVD) deficiency. Molecular analysis of their IVD gene reveals six mutation profiles: R21H, R363C, H100R, S97F, C30Y and Y371C (common recurring missense mutation)
C328R
-
has no detectable enzymatic activity
E254D
-
has residual activity for isovaleryl-CoA, below 0.1%
E254G
E254G/A375E
-
exhibits catalytic activity toward isovaleryl-CoA
E254Q
-
has no detectable enzymatic activity
F350V
-
mutation is involved in isovaleric acidemia, no enzyme activity
G375A
-
c.1124G>A, potentially disease-associated allele
H100R
-
isovaleric acidemia is a rare recessive autosomal disorder, caused by isovaleryl-CoA dehydrogenase (IVD) deficiency. Molecular analysis of their IVD gene reveals six mutation profiles: R21H, R363C, H100R, S97F, C30Y and Y371C (common recurring missense mutation)
I199M
-
naturally occuring missense mutation in a Chinese infant, G39A genotype, phenotype, overview
IVS234+85insTT
-
potentially disease-associated allele
L13P
-
has no detectable enzymatic activity
L370M/G374A
-
site-directed mutagenesis, substrate specificity similar to the wild-type enzyme, reduced activity
L383R/R387A
-
has no detectable activity in crude cellular extracts
L95V/A99V/L103V
-
site-directed mutagenesis, inactive mutant
L95V/A99V/L103V/L370M/G374A
-
site-directed mutagenesis, substitutions in the human enzyme mimick the potato isovaleryl-CoA dehydrogenase isozyme 1, which shows major 2-methylbutyryl-CoA dehydrogenase activity and rather belongs to EC 1.3.99.12, the mutant enzymes shows modified substrate specificty and also exhibits highest activity with 2-methylbutanoyl-CoA, molecular modeling of the active site
R21H
-
isovaleric acidemia is a rare recessive autosomal disorder, caused by isovaleryl-CoA dehydrogenase (IVD) deficiency. Molecular analysis of their IVD gene reveals six mutation profiles: R21H, R363C, H100R, S97F, C30Y and Y371C (common recurring missense mutation)
R21L
-
mutation is involved in isovaleric acidemia, no enzyme activity
R21P
-
has no detectable enzymatic activity
R363C
R382L
-
enzyme activity detected, 7% relative activity to wild-type
R387A
-
enzyme activity detected, the mutant is less able than the mutant R387K to properly form the charge-transfer complex intermediate
R387E
-
enzyme activity detected, the mutant is less able than the mutant R387K to properly form the charge-transfer complex intermediate
R387K
-
enzyme activity detected, the mutant is able to form the charge-transfer complex intermediate with similar efficiency to wild-type
R387Q
-
enzyme activity detected, the mutant is less able than the mutant R387K to properly form the charge-transfer complex intermediate
S249G
-
mutation is involved in isovaleric acidemia, no enzyme activity
S97F
-
isovaleric acidemia is a rare recessive autosomal disorder, caused by isovaleryl-CoA dehydrogenase (IVD) deficiency. Molecular analysis of their IVD gene reveals six mutation profiles: R21H, R363C, H100R, S97F, C30Y and Y371C (common recurring missense mutation)
V342A
-
enzyme activity detected, 12% relative activity to wild-type
W13X
-
naturally occuring missense mutation in a Chinese infant, C597G genotype, phenotype, overview. The mutation may destabilize the IVD monomer structure and affect the interaction between IVD and flavin adenine dinucleotide
Y166F
-
mutation does not block enzyme interaction with the electron transfer protein
Y371C
-
isovaleric acidemia is a rare recessive autosomal disorder, caused by isovaleryl-CoA dehydrogenase (IVD) deficiency. Molecular analysis of their IVD gene reveals six mutation profiles: R21H, R363C, H100R, S97F, C30Y and Y371C (common recurring missense mutation)
E254G
-
site-directed mutagenesis, inactive mutant
E254G/G375E
-
site-directed mutagenesis, shows no activity with (S)-2-methylbutyryl-CoA in contrast to the wild-type enzyme, reduced activity compared to the wild-type enzyme
G375E
-
site-directed mutagenesis, reduced activity compared to the wild-type enzyme
additional information