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Known Diseases associated with this Protein: | CILIARY DYSKINESIA, PRIMARY, 15
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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_035193 | Polymorphism | p.ALA8PRO | N/A | dbSNP | rs61749025 | Polymorphism | p.ARG870CYS | N/A | dbSNP | rs2289531 | Polymorphism | p.ARG291SER | N/A | dbSNP | rs116824266 | Polymorphism | p.ARG483SER | N/A | dbSNP | rs2289527 | Polymorphism | p.ARG69SER | N/A | dbSNP | rs61749058 | Polymorphism | p.PRO630LEU | N/A | dbSNP | rs60684213 | Polymorphism | p.PRO775THR | N/A | dbSNP | rs2885349 | Polymorphism | p.SER169ARG | N/A | OMIM | 613799.0004 | Disease | p.ARG449TER | CILIARY DYSKINESIA, PRIMARY, 15 | OMIM | 613799.0002 | Disease | p.GLN439TER | CILIARY DYSKINESIA, PRIMARY, 15 | OMIM | 613799.0003 | Disease | p.GLN651TER | CILIARY DYSKINESIA, PRIMARY, 15 |
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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