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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 | Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_053424 | Polymorphism | p.GLY1084SER | N/A | | Swiss-Prot | VAR_067312 | Disease | p.LEU7PRO | Asphyxiating thoracic dystrophy 5 (ATD5) | | Swiss-Prot | VAR_067314 | Disease | p.LEU710SER | Cranioectodermal dysplasia 4 (CED4) | | Swiss-Prot | VAR_067313 | Disease | p.VAL345GLY | Nephronophthisis 13 (NPHP13) | | dbSNP | rs75964850 | Polymorphism | p.VAL304ILE | N/A | | OMIM | 608151.0002 | Disease | p.ARG1103TER | CRANIOECTODERMAL DYSPLASIA 4 | | OMIM | 608151.0003 | Disease | p.LEU7PRO | ASPHYXIATING THORACIC DYSTROPHY 5 | | OMIM | 608151.0001 | Disease | p.LEU710SER | CRANIOECTODERMAL DYSPLASIA 4 | | OMIM | 608151.0004 | Disease | p.VAL345GLY | NEPHRONOPHTHISIS 13 |
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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94730676
WDR19_HUMAN RecName: Full=WD repeat-containing protein 19
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