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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_060803 | Disease | p.ASP100GLU | Cone dystrophy 3 (COD3) | | Swiss-Prot | VAR_012987 | Disease | p.GLU155GLY | Cone dystrophy 3 (COD3) | | Swiss-Prot | VAR_060802 | Disease | p.GLU89LYS | Cone dystrophy 3 (COD3) | | Swiss-Prot | VAR_060807 | Disease | p.GLY159VAL | Cone dystrophy 3 (COD3) | | Swiss-Prot | VAR_060806 | Disease | p.LEU151PHE | Cone dystrophy 3 (COD3) | | Swiss-Prot | VAR_010648 | Disease | p.PRO50LEU | Cone dystrophy 3 (COD3) | | Swiss-Prot | VAR_060804 | Polymorphism | p.THR114ILE | N/A | | Swiss-Prot | VAR_001372 | Disease | p.TYR99CYS | Cone dystrophy 3 (COD3) | | OMIM | 600364.0003 | Disease | p.LEU151PHE | CONE-ROD DYSTROPHY 14||CONE DYSTROPHY 3, INCLUDED | | OMIM | 600364.0002 | Disease | p.PRO50LEU | CONE DYSTROPHY 3 | | OMIM | 600364.0001 | Disease | p.TYR99CYS | CONE DYSTROPHY 3||CONE-ROD DYSTROPHY 14, INCLUDED |
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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46577585
GUC1A_HUMAN RecName: Full=Guanylyl cyclase-activating protein 1; Short=GCAP 1; AltName: Full=Guanylate cyclase activator 1A
10
1
3
0
8
