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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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Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs2230287 | Polymorphism | p.ALA129THR | N/A | Swiss-Prot | VAR_033958 | Polymorphism | p.ARG668LEU | N/A | Swiss-Prot | VAR_061982 | Polymorphism | p.ASN231ASP | N/A | Swiss-Prot | VAR_007718 | Disease | p.ASP214ASN | Amyloidosis 5 (AMYL5) | Swiss-Prot | VAR_007719 | Disease | p.ASP214TYR | Amyloidosis 5 (AMYL5) | dbSNP | rs115224458 | Polymorphism | p.LYS61ARG | N/A | Swiss-Prot | VAR_036339 | Polymorphism | p.SER611ASN | N/A | Swiss-Prot | VAR_036337 | Polymorphism | p.SER22LEU | N/A | Swiss-Prot | VAR_036338 | Polymorphism | p.THR201ILE | N/A | dbSNP | rs76463933 | Polymorphism | p.THR616MET | N/A | OMIM | 137350.0001 | Disease | p.ASP187ASN | AMYLOIDOSIS, FAMILIAL, FINNISH TYPE||AMYLOIDOSIS, MERETOJA TYPE | OMIM | 137350.0002 | Disease | p.ASP187TYR | AMYLOIDOSIS, FAMILIAL, FINNISH TYPE |
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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