1.3.8.7: medium-chain acyl-CoA dehydrogenase

genotype, the naturally occuring mutation is involved in medium-chain acyl-CoA dehydrogenase deficiency

A151T

the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency

A293E

less than 5% residual octanoyl-CoA oxidation activity

A31P

A52V

mutation identified in a newborn. Mutatio lowers the temperature threshold at which loss-of-function occurs

A533C

genotype, the naturally occuring mutation is involved in medium-chain acyl-CoA dehydrogenase deficiency

A985G

D221N

less than 5% residual octanoyl-CoA oxidation activity

D266G

mutation identified in a newborn. Mutatio lowers the temperature threshold at which loss-of-function occurs

D320Y

less than 5% residual octanoyl-CoA oxidation activity

D79X

the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency

delT125, E126

less than 5% residual octanoyl-CoA oxidation activity

E18K

2 entries

E376G

the rate of dehydrogenation is lowered by approximately 5 orders of magnitude

685133

E376Q

2 entries

E376Q/E99G

the rate of dehydrogenation is lowered by 4-5 orders of magnitude

685133

F194S

less than 5% residual octanoyl-CoA oxidation activity

G127A

genotype, the naturally occuring mutation is involved in medium-chain acyl-CoA dehydrogenase deficiency, not clearly associated with a clinical phenotype

G170R

the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency

G242R

less than 5% residual octanoyl-CoA oxidation activity

G285R

the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency

G799A

genotype, the naturally occuring mutation is involved in medium-chain acyl-CoA dehydrogenase deficiency

I208T

about 5% residual octanoyl-CoA oxidation activity

K153T

less than 5% residual octanoyl-CoA oxidation activity

K276X

less than 5% residual octanoyl-CoA oxidation activity

K304E

K329E

L59F

the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency

L73DELTA

the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency

M303V

less than 5% residual octanoyl-CoA oxidation activity

N169D

the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency

N354K

about 8% residual octanoyl-CoA oxidation activity

N396Y

involved in MCAD deficiency with a MCAD activity of 11.2% compared to the wild type enzyme, in combination with the deletion mutation DELTA449-CTGA-452

690129

P128X

the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency

Q20R

the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency

R123K

the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency

R206C

mutation identified in a newborn. Mutatio lowers the temperature threshold at which loss-of-function occurs

R256S

the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency

R334K

mutation identified in a newborn. Mutatio lowers the temperature threshold at which loss-of-function occurs

R413S

mutation identified in a newborn. Mutatio lowers the temperature threshold at which loss-of-function occurs

R6H

about 45% residual octanoyl-CoA oxidation activity

T1229G

genotype, the naturally occuring mutation is involved in medium-chain acyl-CoA dehydrogenase deficiency

T168A

thermostability is markedly decreased, 80% lowered activity in ferricinum assay

391373

T199C

genotype, the naturally occuring mutation is involved in medium-chain acyl-CoA dehydrogenase deficiency, not clearly associated with a clinical phenotype

T255E

same activity with octanoyl-CoA as wild-type, activity/chain length profile is, however, narrower

391369

T255E/E376G

chimeric medium-long chain acyl-CoA dehydrogenase, has 20% of the activity of medium-chain acyl-CoA dehydrogenase and 25% that of long-chain acyl-CoA dehydrogenase activity with its best substrates octanoyl-CoA and dodecanoyl-CoA respectively, activity maximum is shifted to C12 and C14-CoA, enzyme shows an enhanced rate of reoxidation with oxygen

391369

T255E/E376T

shifts the chain length activity profile to higher values, drastic reduction of maximal velocity

391369

T92T

the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency

T96I

the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency

V247A

less than 5% residual octanoyl-CoA oxidation activity

V362V

the mutation is involved in medium chain acyl-CoA dehydrogenase deficiency

Y158H

mutation identified in a newborn. Mutatio lowers the temperature threshold at which loss-of-function occurs

Y312S

about 8% residual octanoyl-CoA oxidation activity

Y394X

less than 5% residual octanoyl-CoA oxidation activity

Y42H

Y67H

mutation identified in a newborn. Mutatio lowers the temperature threshold at which loss-of-function occurs

K304E

maximal velocity of the mutant protein is only one third of the wild-type value. 16% higher activity with the natural electron acceptor, electron transferring flavoprotein, than the wild-type enzyme. Decreased stability at temperatures above 42°C compared to wild-type enzyme

655491

R256K

3.6fold increase in Km-value for octanoyl-CoA, 45fold decrease in turnovernumber with octanoyl-CoA compared to wild-type enzyme

657278

Y375A

very low acyl-CoA dehydrogenase activity

Y375E

inactive

Y375F

very low acyl-CoA dehydrogenase activity

685352

Y375K

very low acyl-CoA dehydrogenase activity, mutant exhibits acyl-CoA oxidase activity

685352

Y42H