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Known Diseases associated with this Protein: |  COMPLEMENT FACTOR I DEFICIENCY
| HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3
| HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3, INC
| MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO
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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 Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs74817407 | Polymorphism | p.ARG406HIS | N/A | | dbSNP | rs11098044 | Polymorphism | p.THR300SER | N/A | | OMIM | 217030.0004 | Disease | p.ARG456TER | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 | | OMIM | 217030.0008 | Disease | p.ARG317TRP | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 | | OMIM | 217030.0009 | Disease | p.ASP519ASN | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 | | OMIM | 217030.0005 | Disease | p.ASP506VAL | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 | | OMIM | 217030.0010 | Disease | p.GLY119ARG | MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO||HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3, INC | | OMIM | 217030.0007 | Disease | p.GLY243ASP | COMPLEMENT FACTOR I DEFICIENCY | | OMIM | 217030.0001 | Disease | p.HIS400LEU | COMPLEMENT FACTOR I DEFICIENCY | | OMIM | 217030.0006 | Disease | p.TRP528TER | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3 |
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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119392081
complement factor I preproprotein [Homo sapiens]
8
2
8
2
0
