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Known Diseases associated with this Protein: | HEMOLYTIC UREMIC SYNDROME ATYPICAL 2 (AHUS2)
| HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2
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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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Swiss-Prot | VAR_022264 | Polymorphism | p.ALA353VAL | N/A | Swiss-Prot | VAR_026568 | Polymorphism | p.ARG59GLN | N/A | Swiss-Prot | VAR_022262 | Polymorphism | p.ASP266ASN | N/A | Swiss-Prot | VAR_035828 | Polymorphism | p.CYS228TYR | N/A | Swiss-Prot | VAR_063656 | Disease | p.CYS35TYR | Hemolytic uremic syndrome atypical 2 (AHUS2) | Swiss-Prot | VAR_063658 | Disease | p.PRO231ARG | Hemolytic uremic syndrome atypical 2 (AHUS2) | Swiss-Prot | VAR_022263 | Polymorphism | p.PRO324LEU | N/A | Swiss-Prot | VAR_026569 | Disease | p.PRO165SER | Hemolytic uremic syndrome atypical 2 (AHUS2) | Swiss-Prot | VAR_026567 | Polymorphism | p.SER13PHE | N/A | Swiss-Prot | VAR_026570 | Disease | p.SER240PRO | Hemolytic uremic syndrome atypical 2 (AHUS2) | Swiss-Prot | VAR_063657 | Disease | p.TRP216CYS | Hemolytic uremic syndrome atypical 2 (AHUS2) | Swiss-Prot | VAR_022265 | Polymorphism | p.VAL355GLY | N/A | OMIM | 120920.0005 | Disease | p.ARG25TER | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 | OMIM | 120920.0006 | Disease | p.CYS1TYR | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 | OMIM | 120920.0003 | Disease | p.SER206PRO | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2 |
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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