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Known Diseases associated with this Protein: |  NEURONOPATHY, DISTAL HEREDITARY MOTOR, 2A (HMN2A)
| NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA
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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_042245 | Polymorphism | p.ARG78MET | N/A | | Swiss-Prot | VAR_042244 | Polymorphism | p.GLY67SER | N/A | | Swiss-Prot | VAR_018505 | Disease | p.LYS141ASN | Neuronopathy, distal hereditary motor, 2A (HMN2A) | | Swiss-Prot | VAR_018504 | Disease | p.LYS141GLU | Neuronopathy, distal hereditary motor, 2A (HMN2A) | | OMIM | 608014.0002 | Disease | p.LYS141GLU | NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA |
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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13431576
HSPB8_HUMAN RecName: Full=Heat shock protein beta-8; Short=HspB8; AltName: Full=Alpha-crystallin C chain; AltName: Full=E2-induced gene 1 protein; AltName: Full=Protein kinase H11; AltName: Full=Small stress protein-like protein HSP22
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