EC Number   |
Protein Variants |
Reference |
|---|
    1.2.1.27 | C285A |
expressed in Escherichia coli, no activity |
390223 |
| 1.2.1.27 | C49A/C176A/C305A/C369A/C403A |
kinetic parameters similar to the wild-type enzmye |
671852 |
| 1.2.1.27 | more |
DELTAMomsdh mutant, constructed by DNA targeted replacement of MoMSDH, produces only few restricted lesion on host tissues, MoMSDH deletion accounts for the drastic reduction in lesion size by rendering the DELTAMomsdh mutants incapable of mobilizing the necessary energy required to effectively colonize host tissues. DELTAMomsdh deletion mutants exhibit higher intracellular level of amino acids Val, Leu, Ile, and of pyridoxine |
-, 762976 |
| 1.2.1.27 | more |
further mutant enzyme created by single insertion of glycine at position 225 resulting in significant decrease of the rate constant associated with the dissociation of NADH fromthe NADH/thioacylenzyme complex |
725485 |
| 1.2.1.27 | N251E |
expressed in Escherichia coli, no activity |
390223 |
| 1.2.1.27 | N427L |
substitution dramatically alters the catalytic properties of the enzyme, acylation becomes rate-limiting with a decrease of the associated rate constant by at least 10000fold relative to the wild-type MSDH |
725485 |
| 1.2.1.27 | P62S |
missense mutation in a highly conserved amino acid of MSDH, patient has severe developmental delay associated with development of marked post-natal microcephaly, at 7 years static moderate learning difficulties and borderline microcephaly |
725642 |
| 1.2.1.27 | R124L |
results obtained under pre-steady conditions show that both Arg residues participate not only in methylmalonate semialdehyde binding via stabilizing interactions between the guanidinium groups and the carboxylate but also in the formation of an efficient MSDH-NAD+-methylmalonate semialdehyde ternary complex |
725429 |
| 1.2.1.27 | R301L |
results obtained under pre-steady conditions show that both Arg residues participate not only in methylmalonate semialdehyde binding via stabilizing interactions between the guanidinium groups and the carboxylate but also in the formation of an efficient MSDH-NAD+-methylmalonate semialdehyde ternary complex |
725429 |
| 1.2.1.27 | S262Y |
missense mutation in a highly conserved amino acid of MSDH, patient developed a febrile illness and died from a hepatoencephalopathy at 2 years of age |
725642 |
