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Known Diseases associated with this Protein: |  CILIARY DYSKINESIA, PRIMARY, 11 (CILD11)
| CILIARY DYSKINESIA, PRIMARY, 11, WITHOUT SITUS INVERSUS
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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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| dbSNP | rs9488992 | Polymorphism | p.ALA700VAL | N/A | | dbSNP | rs6927567 | Polymorphism | p.ARG556HIS | N/A | | dbSNP | rs9488991 | Polymorphism | p.ASN627HIS | N/A | | dbSNP | rs784133 | Polymorphism | p.LEU589PRO | N/A | | Swiss-Prot | VAR_055235 | Disease | p.PRO87SER | Ciliary dyskinesia, primary, 11 (CILD11) | | dbSNP | rs13213314 | Polymorphism | p.THR149SER | N/A | | OMIM | 612647.0003 | Disease | p.ARG490TER | CILIARY DYSKINESIA, PRIMARY, 11, WITHOUT SITUS INVERSUS | | OMIM | 612647.0002 | Disease | p.GLN109TER | CILIARY DYSKINESIA, PRIMARY, 11, WITHOUT SITUS INVERSUS | | OMIM | 612647.0001 | Disease | p.GLN154TER | CILIARY DYSKINESIA, PRIMARY, 11, WITHOUT SITUS INVERSUS |
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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74746178
RSH4A_HUMAN RecName: Full=Radial spoke head protein 4 homolog A; AltName: Full=Radial spoke head-like protein 3
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