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Known Diseases associated with this Protein: | CONGENITAL CENTRAL HYPOVENTILATION SYNDROME (CCHS)
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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:
| Swiss-Prot Protein: P23560 Identical to: NP_001700, NP_733929, NP_001137283, NP_001137286, NP_001137285, NP_733928, NP_001137280, NP_001137279, NP_001137278, NP_733931, NP_001137277, NP_001137288, NP_001137284 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_011799 | Polymorphism | p.ARG127LEU | N/A | Swiss-Prot | VAR_011798 | Polymorphism | p.ARG125MET | N/A | Swiss-Prot | VAR_011797 | Polymorphism | p.GLN75HIS | N/A | Swiss-Prot | VAR_018260 | Disease | p.THR2ILE | Congenital central hypoventilation syndrome (CCHS) | dbSNP | rs6265 | Polymorphism | p.VAL66MET | N/A |
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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