|
|
|---|
 |
|
Known Diseases associated with this Protein: |  CHYLOMICRON RETENTION DISEASE
| CHYLOMICRON RETENTION DISEASE (CMRD)
|
|  | 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_016807 | Disease | p.ASP137ASN | Chylomicron retention disease (CMRD) | | Swiss-Prot | VAR_059052 | Disease | p.ASP75GLY | Chylomicron retention disease (CMRD) | | Swiss-Prot | VAR_016806 | Disease | p.GLY37ARG | Chylomicron retention disease (CMRD) | | Swiss-Prot | VAR_059051 | Disease | p.GLY11ASP | Chylomicron retention disease (CMRD) | | Swiss-Prot | VAR_016808 | Disease | p.SER179ARG | Chylomicron retention disease (CMRD) | | OMIM | 607690.0002 | Disease | p.ASP137ASN | CHYLOMICRON RETENTION DISEASE | | OMIM | 607690.0007 | Disease | p.GLU122TER | CHYLOMICRON RETENTION DISEASE | | OMIM | 607690.0001 | Disease | p.GLY37ARG | CHYLOMICRON RETENTION DISEASE | | OMIM | 607690.0008 | Disease | p.GLY185VAL | CHYLOMICRON RETENTION DISEASE | | OMIM | 607690.0004 | Disease | p.SER179ARG | CHYLOMICRON RETENTION DISEASE |
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 |
|
14285769
SAR1B_HUMAN RecName: Full=GTP-binding protein SAR1b; AltName: Full=GTP-binding protein B; Short=GTBPB
10
0
5
0
5
