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Known Diseases associated with this Protein: |  CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED
| CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED (CHTD1)
| HETEROTAXY, VISCERAL, 1, X-LINKED
| HETEROTAXY, VISCERAL, 1, X-LINKED (HTX1)
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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_025633 | Disease | p.CYS253SER | Heterotaxy, visceral, 1, X-linked (HTX1) | | Swiss-Prot | VAR_025634 | Disease | p.HIS286ARG | Heterotaxy, visceral, 1, X-linked (HTX1) | | Swiss-Prot | VAR_025635 | Disease | p.LYS405GLU | Heterotaxy, visceral, 1, X-linked (HTX1) | | Swiss-Prot | VAR_025632 | Disease | p.PRO217ALA | Congenital heart defects, multiple types, 1, X-linked (CHTD1) | | Swiss-Prot | VAR_007753 | Disease | p.THR323MET | Heterotaxy, visceral, 1, X-linked (HTX1) | | Swiss-Prot | VAR_042416 | Disease | p.TRP255GLY | Heterotaxy, visceral, 1, X-linked (HTX1) | | OMIM | 300265.0005 | Disease | p.CYS253SER | HETEROTAXY, VISCERAL, 1, X-LINKED | | OMIM | 300265.0002 | Disease | p.CYS270TER | HETEROTAXY, VISCERAL, 1, X-LINKED | | OMIM | 300265.0004 | Disease | p.GLN249TER | HETEROTAXY, VISCERAL, 1, X-LINKED | | OMIM | 300265.0006 | Disease | p.LYS405GLU | HETEROTAXY, VISCERAL, 1, X-LINKED | | OMIM | 300265.0007 | Disease | p.PRO217ALA | CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED | | OMIM | 300265.0001 | Disease | p.THR325MET | HETEROTAXY, VISCERAL, 1, X-LINKED | | OMIM | 300265.0009 | Disease | p.TRP255GLY | HETEROTAXY, VISCERAL, 1, X-LINKED |
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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6137314
ZIC3_HUMAN RecName: Full=Zinc finger protein ZIC 3; AltName: Full=Zinc finger protein 203; AltName: Full=Zinc finger protein of the cerebellum 3
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0
7
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