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Known Diseases associated with this Protein: | GRISCELLI SYNDROME 2 (GS2)
| GRISCELLI SYNDROME, TYPE 2
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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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Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_011335 | Disease | p.ALA152PRO | Griscelli syndrome 2 (GS2) | Swiss-Prot | VAR_028207 | Polymorphism | p.LEU84PHE | N/A | Swiss-Prot | VAR_011334 | Disease | p.LEU130PRO | Griscelli syndrome 2 (GS2) | Swiss-Prot | VAR_028208 | Polymorphism | p.THR85PRO | N/A | Swiss-Prot | VAR_028206 | Polymorphism | p.THR62SER | N/A | Swiss-Prot | VAR_010654 | Disease | p.TRP73GLY | Griscelli syndrome 2 (GS2) | OMIM | 603868.0006 | Disease | p.ALA152PRO | GRISCELLI SYNDROME, TYPE 2 | OMIM | 603868.0010 | Disease | p.ALA87PRO | GRISCELLI SYNDROME, TYPE 2 | OMIM | 603868.0009 | Disease | p.GLN118TER | GRISCELLI SYNDROME, TYPE 2 | OMIM | 603868.0005 | Disease | p.LEU130PRO | GRISCELLI SYNDROME, TYPE 2 | OMIM | 603868.0001 | Disease | p.TRP73GLY | GRISCELLI SYNDROME, TYPE 2 |
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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