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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_070022 | Disease | p.ARG76CYS | Cataract 1, multiple types (CTRCT1) | | Swiss-Prot | VAR_038800 | Disease | p.ARG198GLN | Cataract 1, multiple types (CTRCT1) | | Swiss-Prot | VAR_038797 | Disease | p.ARG23THR | Cataract 1, multiple types (CTRCT1) | | Swiss-Prot | VAR_069579 | Disease | p.ASP47ASN | Cataract 1, multiple types (CTRCT1) | | Swiss-Prot | VAR_070021 | Disease | p.ASP67GLY | Cataract 1, multiple types (CTRCT1) | | Swiss-Prot | VAR_038799 | Disease | p.GLU48LYS | Cataract 1, multiple types (CTRCT1) | | Swiss-Prot | VAR_038801 | Polymorphism | p.ILE247MET | N/A | | Swiss-Prot | VAR_002005 | Disease | p.PRO88SER | Cataract 1, multiple types (CTRCT1) | | Swiss-Prot | VAR_038798 | Disease | p.VAL44GLU | Cataract 1, multiple types (CTRCT1) | | Swiss-Prot | VAR_037642 | Disease | p.VAL64GLY | Cataract 1, multiple types (CTRCT1) | | OMIM | 600897.0006 | Disease | p.ARG198GLN | CATARACT 1, POSTERIOR SUBCAPSULAR, WITH MICROCORNEA | | OMIM | 600897.0004 | Disease | p.ARG23THR | CATARACT 1, NUCLEAR PROGRESSIVE | | OMIM | 600897.0007 | Disease | p.ASP47ASN | CATARACT 1, MULTIPLE TYPES | | OMIM | 600897.0002 | Disease | p.GLU48LYS | CATARACT 1, ZONULAR PULVERULENT | | OMIM | 600897.0003 | Disease | p.ILE247MET | CATARACT 1, ZONULAR PULVERULENT | | OMIM | 600897.0008 | Disease | p.PRO189LEU | CATARACT 1, STELLATE NUCLEAR, WITH MICROCORNEA | | OMIM | 600897.0001 | Disease | p.PRO88SER | CATARACT 1, ZONULAR PULVERULENT | | OMIM | 600897.0005 | Disease | p.VAL44GLU | CATARACT 1 WITH MICROCORNEA |
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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13124697
CXA8_HUMAN RecName: Full=Gap junction alpha-8 protein; AltName: Full=Connexin-50; Short=Cx50; AltName: Full=Lens fiber protein MP70
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