|
|
|---|
 |
|
|  | 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_039144 | Polymorphism | p.LYS344ASN | N/A | | Swiss-Prot | VAR_064336 | Disease | p.PHE124LEU | Maculopathy, IMPG2-related (MACLP-IMPG2) | | Swiss-Prot | VAR_039146 | Polymorphism | p.PRO1013LEU | N/A | | dbSNP | rs571391 | Polymorphism | p.THR674ILE | N/A | | OMIM | 607056.0003 | Disease | p.ARG906TER | RETINITIS PIGMENTOSA 56 | | OMIM | 607056.0004 | Disease | p.ARG964TER | RETINITIS PIGMENTOSA 56 | | OMIM | 607056.0005 | Disease | p.PHE124LEU | MACULOPATHY, IMPG2-RELATED | | OMIM | 607056.0001 | Disease | p.SER212TER | RETINITIS PIGMENTOSA 56 |
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 |
|
296439325
IMPG2_HUMAN RecName: Full=Interphotoreceptor matrix proteoglycan 2; AltName: Full=Interphotoreceptor matrix proteoglycan of 200 kDa; Short=IPM 200; AltName: Full=Sialoprotein associated with cones and rods proteoglycan; Short=Spacrcan; Flags: Precursor
5
3
4
1
3
