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Known Diseases associated with this Protein: | RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE DEAFNESS
| RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS (DRTA-D)
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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_021013 | Disease | p.ARG157CYS | Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) | Swiss-Prot | VAR_021015 | Disease | p.ARG465HIS | Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) | Swiss-Prot | VAR_007867 | Disease | p.ARG124TRP | Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) | Swiss-Prot | VAR_021014 | Polymorphism | p.GLU161LYS | N/A | Swiss-Prot | VAR_007870 | Disease | p.GLY316GLU | Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) | Swiss-Prot | VAR_007872 | Disease | p.GLY364SER | Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) | Swiss-Prot | VAR_021012 | Disease | p.GLY123VAL | Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) | Swiss-Prot | VAR_007866 | Disease | p.LEU81PRO | Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) | Swiss-Prot | VAR_007868 | Disease | p.MET174ARG | Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) | dbSNP | rs11681642 | Polymorphism | p.MET1THR | N/A | Swiss-Prot | VAR_007871 | Disease | p.PRO346ARG | Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) | dbSNP | rs17720303 | Polymorphism | p.THR30ILE | N/A | Swiss-Prot | VAR_007869 | Disease | p.THR275PRO | Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D) | OMIM | 192132.0001 | Disease | p.ARG31TER | RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE DEAFNESS | OMIM | 192132.0005 | Disease | p.GLY78ARG | RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE DEAFNESS | OMIM | 192132.0004 | Disease | p.LEU81PRO | RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE DEAFNESS |
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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