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Known Diseases associated with this Protein: | WINCHESTER SYNDROME (1 FAMILY)
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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs17882219 | Polymorphism | p.ALA4THR | N/A | Swiss-Prot | VAR_031267 | Polymorphism | p.ARG431HIS | N/A | Swiss-Prot | VAR_021030 | Polymorphism | p.ARG6LYS | N/A | Swiss-Prot | VAR_021034 | Polymorphism | p.ARG302TRP | N/A | dbSNP | rs1042704 | Polymorphism | p.ASP273ASN | N/A | Swiss-Prot | VAR_021032 | Polymorphism | p.ILE233VAL | N/A | Swiss-Prot | VAR_021035 | Polymorphism | p.MET355ILE | N/A | dbSNP | rs1042703 | Polymorphism | p.PRO8SER | N/A | OMIM | 600754.0001 | Disease | p.THR17ARG | WINCHESTER SYNDROME (1 family) |
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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