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Known Diseases associated with this Protein: |  ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
| DYSTONIA 12
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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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| OMIM | 182350.0009 | Disease | p.ASP801ASN | ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 | | OMIM | 182350.0007 | Disease | p.ASP923ASN | DYSTONIA 12 | | OMIM | 182350.0006 | Disease | p.ASP801TYR | DYSTONIA 12 | | OMIM | 182350.0003 | Disease | p.GLU277LYS | DYSTONIA 12 | | OMIM | 182350.0010 | Disease | p.GLU815LYS | ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 | | OMIM | 182350.0012 | Disease | p.GLY947ARG | ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 | | OMIM | 182350.0004 | Disease | p.ILE758SER | DYSTONIA 12 | | OMIM | 182350.0002 | Disease | p.ILE274THR | DYSTONIA 12 | | OMIM | 182350.0005 | Disease | p.PHE780LEU | DYSTONIA 12 | | OMIM | 182350.0011 | Disease | p.SER811PRO | ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 | | OMIM | 182350.0001 | Disease | p.THR613MET | DYSTONIA 12 |
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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371940940
sodium/potassium-transporting ATPase subunit alpha-3 isoform 3 [Homo sapiens]
11
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11
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