|  | 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_036844 | Polymorphism | p.ASN629SER | N/A | | Swiss-Prot | VAR_068502 | Disease | p.HIS1277TYR | Joubert syndrome 19 (JBTS19) | | Swiss-Prot | VAR_068501 | Disease | p.PRO913LEU | Nephronophthisis 14 (NPHP14) | | OMIM | 604557.0003 | Disease | p.HIS1277TYR | JOUBERT SYNDROME 19 | | OMIM | 604557.0001 | Disease | p.PRO913LEU | NEPHRONOPHTHISIS 14 |
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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121941357
ZN423_HUMAN RecName: Full=Zinc finger protein 423; AltName: Full=Olf1/EBF-associated zinc finger protein; Short=hOAZ; AltName: Full=Smad- and Olf-interacting zinc finger protein
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