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|  | 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. |
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 Default View:
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Domains found on the Protein | Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_010382 | Polymorphism | p.ALA31GLY | N/A | | Swiss-Prot | VAR_010383 | Polymorphism | p.ALA31SER | N/A | | Swiss-Prot | VAR_057961 | Disease | p.ARG373CYS | Stargardt disease 4 (STGD4) | | OMIM | 604365.0003 | Disease | p.ARG373CYS | STARGARDT DISEASE 4||MACULAR DYSTROPHY, RETINAL, 2, INCLUDED;;||CONE-ROD DYSTROPHY 12, INCLUDED | | OMIM | 604365.0002 | Disease | p.GLN576TER | RETINITIS PIGMENTOSA 41 |
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 |
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13124442
PROM1_HUMAN RecName: Full=Prominin-1; AltName: Full=Antigen AC133; AltName: Full=Prominin-like protein 1; AltName: CD_antigen=CD133; Flags: Precursor
3
2
2
0
3
