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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_035087 | Disease | p.ARG230LYS | Renal tubular dysgenesis (RTD) | Swiss-Prot | VAR_020375 | Polymorphism | p.ARG33TRP | N/A | Swiss-Prot | VAR_035088 | Disease | p.ASP104ASN | Renal tubular dysgenesis (RTD) | Swiss-Prot | VAR_029171 | Polymorphism | p.GLN160LYS | N/A | dbSNP | rs11571117 | Polymorphism | p.GLY217ARG | N/A | Swiss-Prot | VAR_063770 | Disease | p.LEU16ARG | Familial juvenile hyperuricemic nephropathy 2 (HNFJ2) | OMIM | 179820.0003 | Disease | p.ARG230LYS | RENAL TUBULAR DYSGENESIS | OMIM | 179820.0001 | Disease | p.ARG387TER | HYPERPRORENINEMIA, FAMILIAL | OMIM | 179820.0006 | Disease | p.ARG43TER | RENAL TUBULAR DYSGENESIS | OMIM | 179820.0002 | Disease | p.ARG49TER | RENAL TUBULAR DYSGENESIS | OMIM | 179820.0005 | Disease | p.LEU16ARG | HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 2 | OMIM | 179820.0007 | Disease | p.SER135TYR | RENAL TUBULAR DYSGENESIS |
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.
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