Known Diseases associated with this Protein: |  CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO
|
|  | 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 ↕ |
|---|
| dbSNP | rs2108978 | Polymorphism | p.ARG249HIS | N/A | | dbSNP | rs203462 | Polymorphism | p.ILE646VAL | N/A | | dbSNP | rs79803528 | Polymorphism | p.SER202CYS | N/A | | dbSNP | rs11870360 | Polymorphism | p.SER523LEU | N/A | | OMIM | 604694.0001 | Disease | p.ILE646VAL | CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO |
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 |
|
71153490
AKA10_HUMAN RecName: Full=A-kinase anchor protein 10, mitochondrial; Short=AKAP-10; AltName: Full=Dual specificity A kinase-anchoring protein 2; Short=D-AKAP-2; AltName: Full=Protein kinase A-anchoring protein 10; Short=PRKA10; Flags: Precursor
1
4
1
4
0
