|
|
|---|
 |
|
Known Diseases associated with this Protein: |  NEUTROPENIA, SEVERE CONGENITAL 5, AUTOSOMAL RECESSIVE (SCN5)
| NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE
|
|  | 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 | Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
|---|
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
|---|
| Swiss-Prot | VAR_069866 | Disease | p.GLU238LYS | Neutropenia, severe congenital 5, autosomal recessive (SCN5) | | dbSNP | rs62622370 | Polymorphism | p.ILE82MET | N/A | | Swiss-Prot | VAR_069865 | Disease | p.THR224ASN | Neutropenia, severe congenital 5, autosomal recessive (SCN5) | | OMIM | 610035.0002 | Disease | p.GLU238LYS | NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE | | OMIM | 610035.0001 | Disease | p.THR224ASN | NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE |
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 |
|
23396937
VPS45_HUMAN RecName: Full=Vacuolar protein sorting-associated protein 45; Short=h-VPS45; Short=hlVps45
4
1
2
1
2
