|
|
|---|
 |
|
|  | 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 ↕ |
|---|
| PSI | smart00423 | 5.4e-11 | 497 | 548 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
|---|
| dbSNP | rs2075164 | Polymorphism | p.ARG510GLN | N/A | | dbSNP | rs41265017 | Disease | p.ARG713GLN | Retinitis pigmentosa 35 (RP35) | | Swiss-Prot | VAR_028322 | Disease | p.ASP345HIS | Retinitis pigmentosa 35 (RP35) | | Swiss-Prot | VAR_028323 | Disease | p.PHE350CYS | Retinitis pigmentosa 35 (RP35) | | OMIM | 607292.0003 | Disease | p.ARG713GLN | RETINITIS PIGMENTOSA 35 | | OMIM | 607292.0001 | Disease | p.ASP345HIS | RETINITIS PIGMENTOSA 35||CONE-ROD DYSTROPHY 10, INCLUDED | | OMIM | 607292.0002 | Disease | p.PHE350CYS | RETINITIS PIGMENTOSA 35||CONE-ROD DYSTROPHY 10, INCLUDED |
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 |
|
29840871
SEM4A_HUMAN RecName: Full=Semaphorin-4A; AltName: Full=Semaphorin-B; Short=Sema B; Flags: Precursor
6
1
3
2
2
