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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 Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_021143 | Polymorphism | p.ARG48HIS | N/A | | Swiss-Prot | VAR_021144 | Disease | p.ARG169TRP | Cataract 2, multiple types (CTRCT2) | | Swiss-Prot | VAR_067212 | Disease | p.GLY129CYS | Cataract 2, multiple types (CTRCT2) | | Swiss-Prot | VAR_038432 | Polymorphism | p.PHE6LEU | N/A | | Swiss-Prot | VAR_021142 | Disease | p.THR5PRO | Cataract 2, multiple types (CTRCT2) | | OMIM | 123680.0003 | Disease | p.ARG168TRP | CATARACT 2, MULTIPLE TYPES | | OMIM | 123680.0006 | Disease | p.GLY129CYS | CATARACT 2, NUCLEAR | | OMIM | 123680.0001 | Disease | p.THR5PRO | CATARACT 2, COPPOCK-LIKE |
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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117464
CRGC_HUMAN RecName: Full=Gamma-crystallin C; AltName: Full=Gamma-C-crystallin; AltName: Full=Gamma-crystallin 2-1; AltName: Full=Gamma-crystallin 3
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