|
|
|
|
Known Diseases associated with this Protein: | CONGENITAL DISORDER OF GLYCOSYLATION 1P (CDG1P)
| CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP
|
| | 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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
dbSNP | rs17480245 | Polymorphism | p.ASN108SER | N/A | Swiss-Prot | VAR_068071 | Disease | p.GLN318PRO | Congenital disorder of glycosylation 1P (CDG1P) | Swiss-Prot | VAR_068073 | Disease | p.GLU398LYS | Congenital disorder of glycosylation 1P (CDG1P) | Swiss-Prot | VAR_068072 | Disease | p.LEU381SER | Congenital disorder of glycosylation 1P (CDG1P) | Swiss-Prot | VAR_064908 | Disease | p.LEU86SER | Congenital disorder of glycosylation 1P (CDG1P) | Swiss-Prot | VAR_068070 | Disease | p.TYR279SER | Congenital disorder of glycosylation 1P (CDG1P) | OMIM | 613666.0006 | Disease | p.GLN318PRO | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip | OMIM | 613666.0005 | Disease | p.GLU398LYS | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip | OMIM | 613666.0004 | Disease | p.LEU381SER | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip | OMIM | 613666.0001 | Disease | p.LEU86SER | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip | OMIM | 613666.0003 | Disease | p.TYR279SER | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip |
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 |
|