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Known Diseases associated with this Protein: | BASAL LAMINAR DRUSEN
| BASAL LAMINAR DRUSEN, INCLUDED
| COMPLEMENT FACTOR H DEFICIENCY
| HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
| HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1, INCLUDED;;
| MACULAR DEGENERAT
| MACULAR DEGENERATION, AGE-RELATED, 4, 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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Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs34247141 | Polymorphism | p.GLN1143GLU | N/A | dbSNP | rs1065489 | Polymorphism | p.GLU936ASP | N/A | dbSNP | rs1061170 | Polymorphism | p.HIS402TYR | N/A | dbSNP | rs35343172 | Polymorphism | p.ILE1059THR | N/A | dbSNP | rs35453854 | Polymorphism | p.ILE551THR | N/A | dbSNP | rs515299 | Polymorphism | p.SER890ILE | N/A | dbSNP | rs460897 | Polymorphism | p.SER1191LEU | N/A | dbSNP | rs460184 | Polymorphism | p.VAL1197ALA | N/A | dbSNP | rs800292 | Polymorphism | p.VAL62ILE | N/A | dbSNP | rs534399 | Polymorphism | p.VAL1007LEU | N/A | OMIM | 134370.0017 | Disease | p.ARG1210CYS | COMPLEMENT FACTOR H DEFICIENCY||HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1, INCLUDED;;||MACULAR DEGENERAT | OMIM | 134370.0001 | Disease | p.ARG1215GLY | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 | OMIM | 134370.0013 | Disease | p.ARG127LEU | COMPLEMENT FACTOR H DEFICIENCY | OMIM | 134370.0020 | Disease | p.ARG1078SER | BASAL LAMINAR DRUSEN | OMIM | 134370.0002 | Disease | p.CYS536ARG | COMPLEMENT FACTOR H DEFICIENCY | OMIM | 134370.0010 | Disease | p.CYS431SER | COMPLEMENT FACTOR H DEFICIENCY | OMIM | 134370.0003 | Disease | p.CYS959TYR | COMPLEMENT FACTOR H DEFICIENCY | OMIM | 134370.0019 | Disease | p.GLN408TER | BASAL LAMINAR DRUSEN | OMIM | 134370.0018 | Disease | p.GLU1172TER | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 | OMIM | 134370.0022 | Disease | p.GLU1198TER | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 | OMIM | 134370.0006 | Disease | p.GLU189TER | COMPLEMENT FACTOR H DEFICIENCY | OMIM | 134370.0009 | Disease | p.ILE62VAL | MACULAR DEGENERATION, AGE-RELATED, 4, SUSCEPTIBILITY TO | OMIM | 134370.0007 | Disease | p.LEU1189ARG | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 | OMIM | 134370.0004 | Disease | p.SER1191LEU | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 | OMIM | 134370.0008 | Disease | p.TYR402HIS | MACULAR DEGENERATION, AGE-RELATED, 4, SUSCEPTIBILITY TO||BASAL LAMINAR DRUSEN, INCLUDED | OMIM | 134370.0012 | Disease | p.TYR899TER | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 |
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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