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Known Diseases associated with this Protein: |  ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2
| ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2 (FASPS2)
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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 Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_069801 | Disease | p.HIS46ARG | Advanced sleep phase syndrome, familial, 2 (FASPS2) | | Swiss-Prot | VAR_042081 | Polymorphism | p.PRO401ALA | N/A | | Swiss-Prot | VAR_036451 | Polymorphism | p.SER97CYS | N/A | | Swiss-Prot | VAR_029075 | Disease | p.THR44ALA | Advanced sleep phase syndrome, familial, 2 (FASPS2) | | OMIM | 600864.0002 | Disease | p.HIS46ARG | ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2 | | OMIM | 600864.0001 | Disease | p.THR44ALA | ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 2 |
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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27923980
KC1D_HUMAN RecName: Full=Casein kinase I isoform delta; Short=CKI-delta; Short=CKId; AltName: Full=Tau-protein kinase CSNK1D
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