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Known Diseases associated with this Protein: |  CILIARY DYSKINESIA, PRIMARY, 19
| CILIARY DYSKINESIA, PRIMARY, 19 (CILD19)
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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_069038 | Disease | p.ALA74PRO | Ciliary dyskinesia, primary, 19 (CILD19) | | Swiss-Prot | VAR_069039 | Disease | p.ASP146HIS | Ciliary dyskinesia, primary, 19 (CILD19) | | dbSNP | rs9297853 | Polymorphism | p.ILE466THR | N/A | | dbSNP | rs2293979 | Polymorphism | p.THR232ILE | N/A | | OMIM | 614930.0004 | Disease | p.ALA74PRO | CILIARY DYSKINESIA, PRIMARY, 19 | | OMIM | 614930.0005 | Disease | p.ASP146HIS | CILIARY DYSKINESIA, PRIMARY, 19 | | OMIM | 614930.0007 | Disease | p.GLN188TER | CILIARY DYSKINESIA, PRIMARY, 19 | | OMIM | 614930.0002 | Disease | p.GLN192TER | CILIARY DYSKINESIA, PRIMARY, 19 |
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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134047813
TILB_HUMAN RecName: Full=Protein tilB homolog; AltName: Full=Leucine-rich repeat-containing protein 6; AltName: Full=Leucine-rich testis-specific protein; AltName: Full=Testis-specific leucine-rich repeat protein
6
2
4
2
2
