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Known Diseases associated with this Protein: |  POLYMICROGYRIA WITH SEIZURES
| POLYMICROGYRIA WITH SEIZURES (PMGYS)
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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_069094 | Disease | p.CYS27TYR | Polymicrogyria with seizures (PMGYS) | | Swiss-Prot | VAR_036850 | Polymorphism | p.HIS1742ARG | N/A | | Swiss-Prot | VAR_069095 | Disease | p.LEU932PHE | Polymicrogyria with seizures (PMGYS) | | dbSNP | rs17082206 | Polymorphism | p.LYS245ARG | N/A | | dbSNP | rs4891392 | Polymorphism | p.PHE1761SER | N/A | | dbSNP | rs3911730 | Polymorphism | p.SER126ALA | N/A | | OMIM | 610436.0002 | Disease | p.CYS27TYR | POLYMICROGYRIA WITH SEIZURES | | OMIM | 610436.0001 | Disease | p.LEU932PHE | POLYMICROGYRIA WITH SEIZURES |
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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296452975
RTTN_HUMAN RecName: Full=Rotatin
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