|
|
|---|
 |
|
Known Diseases associated with this Protein: |  SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE
| SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE (SPG35)
|
|  | 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_065245 | Disease | p.ARG154CYS | Spastic paraplegia 35, autosomal recessive (SPG35) | | Swiss-Prot | VAR_064621 | Disease | p.ARG235CYS | Spastic paraplegia 35, autosomal recessive (SPG35) | | Swiss-Prot | VAR_054893 | Disease | p.ASP35TYR | Spastic paraplegia 35, autosomal recessive (SPG35) | | dbSNP | rs35874850 | Polymorphism | p.PRO97ALA | N/A | | dbSNP | rs199659429 | Polymorphism | p.VAL134GLY | N/A | | OMIM | 611026.0005 | Disease | p.ARG154CYS | SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE | | OMIM | 611026.0003 | Disease | p.ARG235CYS | SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE | | OMIM | 611026.0002 | Disease | p.ASP35TYR | SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE | | OMIM | 611026.0007 | Disease | p.PHE236SER | SPASTIC PARAPLEGIA 35, 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 |
|
74749893
FA2H_HUMAN RecName: Full=Fatty acid 2-hydroxylase; AltName: Full=Fatty acid alpha-hydroxylase
7
2
4
2
3
