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Known Diseases associated with this Protein: |  ROLANDIC EPILEPSY WITH SPEECH DYSPRAXIA AND MENTAL RETARDATION X-LINKED (RESDX)
| ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED
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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_030314 | Disease | p.ASN327SER | Rolandic epilepsy with speech dyspraxia and mental retardation X-linked (RESDX) | | Swiss-Prot | VAR_030313 | Polymorphism | p.THR287SER | N/A | | Swiss-Prot | VAR_030312 | Disease | p.TYR72SER | Rolandic epilepsy with speech dyspraxia and mental retardation X-linked (RESDX) | | OMIM | 300642.0001 | Disease | p.ASN327SER | ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED | | OMIM | 300642.0002 | Disease | p.TYR72SER | ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED |
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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74739594
SRPX2_HUMAN RecName: Full=Sushi repeat-containing protein SRPX2; Flags: Precursor
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