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Known Diseases associated with this Protein: | CILIARY DYSKINESIA, PRIMARY, 25
| DYSLEXIA, SUSCEPTIBILITY TO, 1
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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_026215 | Polymorphism | p.ALA332VAL | N/A | dbSNP | rs16976354 | Polymorphism | p.ASN38LYS | N/A | dbSNP | rs600753 | Polymorphism | p.GLU191GLY | N/A | Swiss-Prot | VAR_017383 | Polymorphism | p.PRO2SER | N/A | dbSNP | rs77641439 | Polymorphism | p.SER420CYS | N/A | dbSNP | rs17819126 | Polymorphism | p.VAL91ILE | N/A | OMIM | 608706.0004 | Disease | p.ARG270TER | CILIARY DYSKINESIA, PRIMARY, 25 | OMIM | 608706.0005 | Disease | p.GLU109TER | CILIARY DYSKINESIA, PRIMARY, 25 | OMIM | 608706.0002 | Disease | p.GLU417TER | DYSLEXIA, SUSCEPTIBILITY TO, 1 |
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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