EC Number   |
Protein Variants |
Reference  |
|---|
    4.1.1.9 | more |
genetic mutation causing malonic aciduria: a four nucleotide deletion at the 3-end of exon 2 of the gene, c.638-641delGTGA, that introduces a premature stop codon and deletes the 272 carboxy terminal amino acids of the protein |
652698 |
| 4.1.1.9 | K210M |
completely inactive |
681625 |
| 4.1.1.9 | K308M |
retains 60% of the wild type enzyme activity |
681625 |
| 4.1.1.9 | K388M |
retains 60% of the wild type enzyme activity |
681625 |
| 4.1.1.9 | H152N |
naturally occuring compound heterozygous MLYCD mutation at the N-terminal helical domain |
727260 |
| 4.1.1.9 | M1K |
naturally occuring heterozygous mutation without direct phenotype |
727260 |
| 4.1.1.9 | C206S |
site-directed mutagenesis |
727943 |
| 4.1.1.9 | C206S/C243S |
site-directed mutagenesis |
727943 |
| 4.1.1.9 | C243S |
site-directed mutagenesis |
727943 |
| 4.1.1.9 | E302G |
site-directed mutagenesis |
727943 |
