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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 Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_024755 | Disease | p.ALA843VAL | Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) | | Swiss-Prot | VAR_024756 | Disease | p.ARG925CYS | Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) | | Swiss-Prot | VAR_024754 | Disease | p.ARG554HIS | Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) | | Swiss-Prot | VAR_024751 | Disease | p.ARG342SER | Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) | | Swiss-Prot | VAR_024752 | Disease | p.SER471LEU | Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) | | Swiss-Prot | VAR_024753 | Disease | p.THR529SER | Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) | | OMIM | 603345.0002 | Disease | p.ARG510HIS | RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL||RETARDATION | | OMIM | 603345.0001 | Disease | p.ARG298SER | RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL||RETARDATION | | OMIM | 603345.0003 | Disease | p.GLN29TER | RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL||RETARDATION |
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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74721543
S4A4_HUMAN RecName: Full=Electrogenic sodium bicarbonate cotransporter 1; Short=Sodium bicarbonate cotransporter; AltName: Full=Na(+)/HCO3(-) cotransporter; AltName: Full=Solute carrier family 4 member 4; AltName: Full=kNBC1
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