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Known Diseases associated with this Protein: | PULMONARY HYPERTENSION, PRIMARY, 1
| PULMONARY HYPERTENSION, PRIMARY, 1 (PPH1)
| PULMONARY HYPERTENSION, PRIMARY, 1, WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA
| PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED, INCLUDED
| PULMONARY HYPERTENSION, PRIMARY, FENFLURAMINE-ASSOCIATED
| PULMONARY VENOOCCLUSIVE DISEASE
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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_013680 | Disease | p.ARG491GLN | Pulmonary hypertension, primary, 1 (PPH1) | Swiss-Prot | VAR_033111 | Disease | p.ARG899PRO | Pulmonary hypertension, primary, 1 (PPH1) | Swiss-Prot | VAR_013681 | Disease | p.ARG491TRP | Pulmonary hypertension, primary, 1 (PPH1) | Swiss-Prot | VAR_013683 | Disease | p.ASN519LYS | Pulmonary hypertension, primary, 1 (PPH1) | Swiss-Prot | VAR_013679 | Disease | p.ASP485GLY | Pulmonary hypertension, primary, 1 (PPH1) | Swiss-Prot | VAR_013673 | Disease | p.CYS123ARG | Pulmonary hypertension, primary, 1 (PPH1) | Swiss-Prot | VAR_013677 | Disease | p.CYS420ARG | Pulmonary hypertension, primary, 1 (PPH1) | Swiss-Prot | VAR_013678 | Disease | p.CYS483ARG | Pulmonary hypertension, primary, 1 (PPH1) | Swiss-Prot | VAR_013674 | Disease | p.CYS123SER | Pulmonary hypertension, primary, 1 (PPH1) | Swiss-Prot | VAR_013672 | Disease | p.CYS118TRP | Pulmonary hypertension, primary, 1 (PPH1) | Swiss-Prot | VAR_013671 | Disease | p.CYS117TYR | Pulmonary hypertension, primary, 1 (PPH1) | Swiss-Prot | VAR_013676 | Disease | p.CYS347TYR | Pulmonary hypertension, primary, 1 (PPH1) | Swiss-Prot | VAR_013670 | Disease | p.CYS60TYR | Pulmonary hypertension, primary, 1 (PPH1) | Swiss-Prot | VAR_033109 | Disease | p.GLN82HIS | Pulmonary hypertension, primary, 1 (PPH1) | Swiss-Prot | VAR_013675 | Polymorphism | p.GLU224ASP | N/A | Swiss-Prot | VAR_033110 | Disease | p.GLY182ASP | Pulmonary hypertension, primary, 1 (PPH1) | Swiss-Prot | VAR_013682 | Disease | p.LYS512THR | Pulmonary hypertension, primary, 1 (PPH1) | Swiss-Prot | VAR_019996 | Polymorphism | p.SER775ASN | N/A | OMIM | 600799.0013 | Disease | p.ARG491GLN | PULMONARY HYPERTENSION, PRIMARY, 1 | OMIM | 600799.0018 | Disease | p.ARG899PRO | PULMONARY HYPERTENSION, PRIMARY, 1 | OMIM | 600799.0019 | Disease | p.ARG211TER | PULMONARY HYPERTENSION, PRIMARY, 1||PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED, INCLUDED | OMIM | 600799.0017 | Disease | p.ARG332TER | PULMONARY HYPERTENSION, PRIMARY, 1 | OMIM | 600799.0012 | Disease | p.ARG873TER | PULMONARY HYPERTENSION, PRIMARY, 1 | OMIM | 600799.0002 | Disease | p.ARG899TER | PULMONARY HYPERTENSION, PRIMARY, 1 | OMIM | 600799.0008 | Disease | p.ARG491TRP | PULMONARY HYPERTENSION, PRIMARY, 1 | OMIM | 600799.0027 | Disease | p.ASN202TYR | PULMONARY VENOOCCLUSIVE DISEASE | OMIM | 600799.0007 | Disease | p.ASP485GLY | PULMONARY HYPERTENSION, PRIMARY, 1 | OMIM | 600799.0015 | Disease | p.CYS123ARG | PULMONARY HYPERTENSION, PRIMARY, 1 | OMIM | 600799.0016 | Disease | p.CYS123SER | PULMONARY HYPERTENSION, PRIMARY, 1 | OMIM | 600799.0011 | Disease | p.CYS169TER | PULMONARY HYPERTENSION, PRIMARY, 1 | OMIM | 600799.0005 | Disease | p.CYS118TRP | PULMONARY HYPERTENSION, PRIMARY, 1 | OMIM | 600799.0006 | Disease | p.CYS347TYR | PULMONARY HYPERTENSION, PRIMARY, 1 | OMIM | 600799.0026 | Disease | p.GLN433TER | PULMONARY HYPERTENSION, PRIMARY, 1, WITH HEREDITARY HEMORRHAGIC TELANGIECTASIA | OMIM | 600799.0028 | Disease | p.GLU195TER | PULMONARY VENOOCCLUSIVE DISEASE | OMIM | 600799.0020 | Disease | p.GLY182ASP | PULMONARY HYPERTENSION, PRIMARY, FENFLURAMINE-ASSOCIATED | OMIM | 600799.0003 | Disease | p.SER73TER | PULMONARY HYPERTENSION, PRIMARY, 1 | OMIM | 600799.0022 | Disease | p.TYR40TER | PULMONARY VENOOCCLUSIVE DISEASE |
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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