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Known Diseases associated with this Protein: |  SECKEL SYNDROME 7 (SCKL7)
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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 | Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_069084 | Disease | p.ASN1709SER | Seckel syndrome 7 (SCKL7) | | Swiss-Prot | VAR_069083 | Disease | p.GLN1222ARG | Seckel syndrome 7 (SCKL7) | | Swiss-Prot | VAR_051236 | Polymorphism | p.GLN1934GLU | N/A | | Swiss-Prot | VAR_051235 | Polymorphism | p.GLN1125PRO | N/A | | Swiss-Prot | VAR_019454 | Polymorphism | p.GLY1320GLU | N/A | | Swiss-Prot | VAR_019453 | Polymorphism | p.PRO1111ALA | N/A | | Swiss-Prot | VAR_019455 | Polymorphism | p.SER1837THR | 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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311033487
NIN_HUMAN RecName: Full=Ninein; Short=hNinein; AltName: Full=Glycogen synthase kinase 3 beta-interacting protein; Short=GSK3B-interacting protein
2
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