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Known Diseases associated with this Protein: |  BLEPHAROPHIMOSIS-PTOSIS-INTELLECTUAL DISABILITY SYNDROME
| BLEPHAROPHIMOSIS-PTOSIS-INTELLECTUAL DISABILITY SYNDROME (BPIDS)
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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 | rs7298565 | Polymorphism | p.ARG346GLN | N/A | | Swiss-Prot | VAR_069712 | Disease | p.GLN727PRO | Blepharophimosis-ptosis-intellectual disability syndrome (BPIDS) | | OMIM | 608047.0004 | Disease | p.GLN727PRO | BLEPHAROPHIMOSIS-PTOSIS-INTELLECTUAL DISABILITY SYNDROME |
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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296453010
UBE3B_HUMAN RecName: Full=Ubiquitin-protein ligase E3B
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