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Known Diseases associated with this Protein: | BLOOM SYNDROME (BLM)
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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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Swiss-Prot | VAR_051731 | Polymorphism | p.ALA1043ASP | N/A | Swiss-Prot | VAR_022297 | Polymorphism | p.ARG591GLN | N/A | Swiss-Prot | VAR_016033 | Disease | p.CYS878ARG | Bloom syndrome (BLM) | Swiss-Prot | VAR_009140 | Disease | p.CYS1036PHE | Bloom syndrome (BLM) | Swiss-Prot | VAR_006903 | Disease | p.CYS1055SER | Bloom syndrome (BLM) | Swiss-Prot | VAR_009139 | Disease | p.CYS901TYR | Bloom syndrome (BLM) | Swiss-Prot | VAR_006901 | Disease | p.GLN672ARG | Bloom syndrome (BLM) | Swiss-Prot | VAR_022300 | Polymorphism | p.GLU1213LYS | N/A | Swiss-Prot | VAR_009138 | Disease | p.GLY891GLU | Bloom syndrome (BLM) | Swiss-Prot | VAR_016032 | Disease | p.ILE841THR | Bloom syndrome (BLM) | Swiss-Prot | VAR_022295 | Polymorphism | p.LYS137ARG | N/A | dbSNP | rs11852361 | Polymorphism | p.PRO868LEU | N/A | Swiss-Prot | VAR_014912 | Polymorphism | p.SER1209THR | N/A | Swiss-Prot | VAR_006902 | Disease | p.THR843ILE | Bloom syndrome (BLM) | dbSNP | rs28384991 | Polymorphism | p.THR298MET | N/A | Swiss-Prot | VAR_022299 | Polymorphism | p.VAL1205ILE | N/A | dbSNP | rs7167216 | Polymorphism | p.VAL1321ILE | 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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