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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_066716 | Disease | p.ARG76GLY | Cataract 14, multiple types (CTRCT14) | | Swiss-Prot | VAR_030023 | Disease | p.ARG76HIS | Cataract 14, multiple types (CTRCT14) | | Swiss-Prot | VAR_066713 | Disease | p.ARG33LEU | Cataract 14, multiple types (CTRCT14) | | Swiss-Prot | VAR_009158 | Disease | p.ASN63SER | Cataract 14, multiple types (CTRCT14) | | Swiss-Prot | VAR_066719 | Disease | p.ASN188THR | Cataract 14, multiple types (CTRCT14) | | Swiss-Prot | VAR_066715 | Disease | p.ASP47ASN | Cataract 14, multiple types (CTRCT14) | | Swiss-Prot | VAR_066711 | Disease | p.ASP3TYR | Cataract 14, multiple types (CTRCT14) | | Swiss-Prot | VAR_066710 | Disease | p.GLY2ASP | Cataract 14, multiple types (CTRCT14) | | Swiss-Prot | VAR_022426 | Polymorphism | p.LEU299MET | N/A | | Swiss-Prot | VAR_030020 | Polymorphism | p.LEU11SER | N/A | | Swiss-Prot | VAR_030021 | Disease | p.PHE32LEU | Cataract 14, multiple types (CTRCT14) | | Swiss-Prot | VAR_023447 | Disease | p.PRO187LEU | Cataract 14, multiple types (CTRCT14) | | Swiss-Prot | VAR_030022 | Disease | p.PRO59LEU | Cataract 14, multiple types (CTRCT14) | | Swiss-Prot | VAR_066718 | Disease | p.PRO187SER | Cataract 14, multiple types (CTRCT14) | | Swiss-Prot | VAR_066717 | Disease | p.THR87MET | Cataract 14, multiple types (CTRCT14) | | Swiss-Prot | VAR_038796 | Disease | p.TRP45SER | Cataract 14, multiple types (CTRCT14) | | Swiss-Prot | VAR_066712 | Disease | p.VAL28MET | Cataract 14, multiple types (CTRCT14) | | Swiss-Prot | VAR_066714 | Disease | p.VAL44MET | Cataract 14, multiple types (CTRCT14) | | OMIM | 121015.0004 | Disease | p.ARG76HIS | CATARACT 14, ZONULAR PULVERULENT | | OMIM | 121015.0007 | Disease | p.ASN188ILE | CATARACT 14, NUCLEAR CORALLIFORM | | OMIM | 121015.0001 | Disease | p.ASN63SER | CATARACT 14, ZONULAR PULVERULENT | | OMIM | 121015.0005 | Disease | p.ASN188THR | CATARACT 14, NUCLEAR PULVERULENT | | OMIM | 121015.0009 | Disease | p.GLY143ARG | CATARACT 14, COPPOCK-LIKE | | OMIM | 121015.0006 | Disease | p.GLY2ASP | CATARACT 14, NUCLEAR PULVERULENT AND POSTERIOR POLAR | | OMIM | 121015.0008 | Disease | p.PHE206ILE | CATARACT 14, EMBRYONAL NUCLEAR | | OMIM | 121015.0003 | Disease | p.PRO187LEU | CATARACT 14, ZONULAR PULVERULENT |
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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311033478
CXA3_HUMAN RecName: Full=Gap junction alpha-3 protein; AltName: Full=Connexin-46; Short=Cx46
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