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Known Diseases associated with this Protein: |  DISORDERS
| EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR
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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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| dbSNP | rs1142636 | Polymorphism | p.ASN170LYS | N/A | | OMIM | 313440.0003 | Disease | p.ALA550THR | EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR||DISORDERS | | OMIM | 313440.0002 | Disease | p.GLN555TER | EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR||DISORDERS | | OMIM | 313440.0004 | Disease | p.THR567ALA | EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR||DISORDERS | | OMIM | 313440.0001 | Disease | p.TRP356TER | EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR||DISORDERS |
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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73920800
SYN1_HUMAN RecName: Full=Synapsin-1; AltName: Full=Brain protein 4.1; AltName: Full=Synapsin I
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1
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