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Literature summary for 2.1.2.10 extracted from
- Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH) (2003), Mol. Genet. Metab., 79, 272-280.
Application
| Application | Comment | Organism |
|---|---|---|
| medicine | identification of several mutations and polymorphisms occurring in patients with glycine encephalopathy, NKH, and methods for their PCR-restriction enzyme analysis | Homo sapiens |
Protein Variants
| Protein Variants | Comment | Organism |
|---|---|---|
| E211K | polymorphism occurring in patients with glycine encephalopathy, NKH, method for PCR-restriction enzyme analysis | Homo sapiens |
| R296H | mutation occurring in patients with glycine encephalopathy, NKH, method for PCR-restriction enzyme analysis | Homo sapiens |
| R318R | polymorphism occurring in patients with glycine encephalopathy, NKH, method for PCR-restriction enzyme analysis | Homo sapiens |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | - |
- |
- |
Source Tissue
| Source Tissue | Comment | Organism | Textmining |
|---|---|---|---|
| lymphoblast | - |
Homo sapiens | - |
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Release 2023.1 (January 2023)
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