|
|
|---|
 |
|
Known Diseases associated with this Protein: |  SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT
| SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (SPG6)
|
|  | 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_023441 | Disease | p.GLY106ARG | Spastic paraplegia 6, autosomal dominant (SPG6) | | Swiss-Prot | VAR_023440 | Disease | p.THR45ARG | Spastic paraplegia 6, autosomal dominant (SPG6) | | OMIM | 608145.0004 | Disease | p.GLY106ARG | SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT | | OMIM | 608145.0001 | Disease | p.THR45ARG | SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT |
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 |
|
73921215
NIPA1_HUMAN RecName: Full=Magnesium transporter NIPA1; AltName: Full=Non-imprinted in Prader-Willi/Angelman syndrome region protein 1; AltName: Full=Spastic paraplegia 6 protein
4
0
2
0
2
