EC Number   |
Protein Variants |
Reference |
|---|
   2.1.2.10 | D276H |
nonketotic hyperglycinemia, rare mutation |
485696 |
| 2.1.2.10 | D96N |
site-directed mutagenesis, both the glycine cleavage and synthesis activities are reduced to 34% compared to the wild-type enzyme |
719865 |
| 2.1.2.10 | D96N/Y188F |
site-directed mutagenesis, the mutations abolish both the glycine cleavage and synthesis activities |
719865 |
| 2.1.2.10 | D97N |
site-directed mutagenesis, the mutation abolishes both the glycine cleavage and synthesis activities |
719865 |
| 2.1.2.10 | D97N/Y188F |
site-directed mutagenesis, the mutations abolish both the glycine cleavage and synthesis activities |
719865 |
| 2.1.2.10 | E211K |
polymorphism occurring in patients with glycine encephalopathy, NKH, method for PCR-restriction enzyme analysis |
662879 |
| 2.1.2.10 | F483S |
naturally occuring mutation that causes D-glyceric aciduria |
759778 |
| 2.1.2.10 | G269D |
nonketotic hyperglycinemia, rare mutation |
485696 |
| 2.1.2.10 | G47R |
nonketotic hyperglycinemia, rare mutation |
485696 |
| 2.1.2.10 | H42R |
present in many nonketotic hyperglycinemia affected members of an extended Israeli-Arab kindred |
485696 |
