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Known Diseases associated with this Protein: |  PULMONARY HYPERTENSION, PRIMARY, 4
| PULMONARY HYPERTENSION, PRIMARY, 4 (PPH4)
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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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| Swiss-Prot | VAR_070128 | Disease | p.GLU182LYS | Pulmonary hypertension, primary, 4 (PPH4) | | Swiss-Prot | VAR_070127 | Disease | p.GLY97ARG | Pulmonary hypertension, primary, 4 (PPH4) | | Swiss-Prot | VAR_070130 | Disease | p.GLY203ASP | Pulmonary hypertension, primary, 4 (PPH4) | | Swiss-Prot | VAR_070126 | Disease | p.THR8LYS | Pulmonary hypertension, primary, 4 (PPH4) | | Swiss-Prot | VAR_070129 | Disease | p.TYR192CYS | Pulmonary hypertension, primary, 4 (PPH4) | | Swiss-Prot | VAR_070131 | Disease | p.VAL221LEU | Pulmonary hypertension, primary, 4 (PPH4) | | OMIM | 603220.0004 | Disease | p.GLU182LYS | PULMONARY HYPERTENSION, PRIMARY, 4 | | OMIM | 603220.0002 | Disease | p.GLY97ARG | PULMONARY HYPERTENSION, PRIMARY, 4 | | OMIM | 603220.0001 | Disease | p.GLY203ASP | PULMONARY HYPERTENSION, PRIMARY, 4 | | OMIM | 603220.0005 | Disease | p.TYR192CYS | PULMONARY HYPERTENSION, PRIMARY, 4 | | OMIM | 603220.0003 | Disease | p.VAL221LEU | PULMONARY HYPERTENSION, PRIMARY, 4 |
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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13124040
KCNK3_HUMAN RecName: Full=Potassium channel subfamily K member 3; AltName: Full=Acid-sensitive potassium channel protein TASK-1; AltName: Full=TWIK-related acid-sensitive K(+) channel 1; AltName: Full=Two pore potassium channel KT3.1; Short=Two pore K(+) channel KT3.1
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