EC Number   |
Protein Variants |
Reference |
|---|
    4.1.1.9 | K210M |
completely inactive |
681625 |
| 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 | 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 | S440I |
naturally occuring mutation in the catalytic domain, the mutantion is involved in enzyme deficiency |
728812 |
| 4.1.1.9 | S477F |
naturally occuring mutation in the catalytic domain, the mutantion is involved in enzyme deficiency |
728812 |
| 4.1.1.9 | W384C |
naturally occuring mutation in the catalytic domain, the mutantion is involved in enzyme deficiency |
728812 |
| 4.1.1.9 | G300V |
naturally occuring mutation in the GNAT core, the mutantion is involved in enzyme deficiency |
728812 |
| 4.1.1.9 | L307R |
naturally occuring mutation in the GNAT core, the mutantion is involved in enzyme deficiency |
728812 |
| 4.1.1.9 | S290F |
naturally occuring mutation in the GNAT core, the mutantion is involved in enzyme deficiency |
728812 |
