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Known Diseases associated with this Protein: |  GLYCINE ENCEPHALOPATHY
| NON-KETOTIC HYPERGLYCINEMIA (NKH)
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|  | Tips: The Domains on the Default View are decided by the Domain's E-Value. Clicking a check box will display or hide the correlated domain. To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic. |
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 Default View:
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 Domains found on the Protein Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_007955 | Disease | p.ARG320HIS | Non-ketotic hyperglycinemia (NKH) | | Swiss-Prot | VAR_016847 | Disease | p.ASN145ILE | Non-ketotic hyperglycinemia (NKH) | | Swiss-Prot | VAR_007954 | Disease | p.ASP276HIS | Non-ketotic hyperglycinemia (NKH) | | Swiss-Prot | VAR_016848 | Disease | p.GLU211LYS | Non-ketotic hyperglycinemia (NKH) | | Swiss-Prot | VAR_007952 | Disease | p.GLY47ARG | Non-ketotic hyperglycinemia (NKH) | | Swiss-Prot | VAR_007953 | Disease | p.GLY269ASP | Non-ketotic hyperglycinemia (NKH) | | Swiss-Prot | VAR_007951 | Disease | p.HIS42ARG | Non-ketotic hyperglycinemia (NKH) | | OMIM | 238310.0006 | Disease | p.ARG320HIS | GLYCINE ENCEPHALOPATHY | | OMIM | 238310.0005 | Disease | p.ASP276HIS | GLYCINE ENCEPHALOPATHY | | OMIM | 238310.0007 | Disease | p.GLN192TER | GLYCINE ENCEPHALOPATHY | | OMIM | 238310.0002 | Disease | p.GLY47ARG | GLYCINE ENCEPHALOPATHY | | OMIM | 238310.0001 | Disease | p.GLY269ASP | GLYCINE ENCEPHALOPATHY | | OMIM | 238310.0003 | Disease | p.HIS42ARG | GLYCINE ENCEPHALOPATHY |
Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.
| DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD
21250 | Department of Biological Sciences | Phone: 410-455-2258 |
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1346122
GCST_HUMAN RecName: Full=Aminomethyltransferase, mitochondrial; AltName: Full=Glycine cleavage system T protein; Short=GCVT; Flags: Precursor
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