|
|
|---|
 |
|
|  | 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. |
|---|
 Default View:
| |
|---|
 Domains found on the Protein Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
|---|
| Swiss-Prot | VAR_067392 | Disease | p.ASN50HIS | Thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type (THMD5) | | Swiss-Prot | VAR_067393 | Disease | p.ASN219SER | Thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type (THMD5) | | Swiss-Prot | VAR_067391 | Disease | p.LEU40PRO | Thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type (THMD5) | | OMIM | 606370.0001 | Disease | p.ASN50HIS | THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY||TYPE) | | OMIM | 606370.0005 | Disease | p.ASN219SER | THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY||TYPE) | | OMIM | 606370.0003 | Disease | p.LEU40PRO | THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY||TYPE) |
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 |
|
44888537
TPK1_HUMAN RecName: Full=Thiamin pyrophosphokinase 1; Short=hTPK1; AltName: Full=Placental protein 20; Short=PP20; AltName: Full=Thiamine pyrophosphokinase 1
6
0
3
0
3
