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Known Diseases associated with this Protein: |  CILIARY DYSKINESIA, PRIMARY, 22
| CILIARY DYSKINESIA, PRIMARY, 22 (CILD22)
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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_014227 | Polymorphism | p.ARG407GLN | N/A | | Swiss-Prot | VAR_070188 | Polymorphism | p.ARG369TRP | N/A | | Swiss-Prot | VAR_070187 | Disease | p.LEU266PRO | Ciliary dyskinesia, primary, 22 (CILD22) | | Swiss-Prot | VAR_070186 | Disease | p.LEU39PRO | Ciliary dyskinesia, primary, 22 (CILD22) | | Swiss-Prot | VAR_070185 | Disease | p.SER29PRO | Ciliary dyskinesia, primary, 22 (CILD22) | | Swiss-Prot | VAR_070189 | Disease | p.TYR379CYS | Ciliary dyskinesia, primary, 22 (CILD22) | | Swiss-Prot | VAR_070184 | Disease | p.VAL16GLY | Ciliary dyskinesia, primary, 22 (CILD22) | | OMIM | 607070.0004 | Disease | p.GLN323TER | CILIARY DYSKINESIA, PRIMARY, 22 | | OMIM | 607070.0006 | Disease | p.LEU266PRO | CILIARY DYSKINESIA, PRIMARY, 22 | | OMIM | 607070.0001 | Disease | p.VAL16GLY | CILIARY DYSKINESIA, PRIMARY, 22 |
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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25008174
ZMY10_HUMAN RecName: Full=Zinc finger MYND domain-containing protein 10; AltName: Full=Protein BLu
8
2
3
0
7
