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Known Diseases associated with this Protein: |  SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING
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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_015657 | Polymorphism | p.ARG1406LYS | N/A | | Swiss-Prot | VAR_036748 | Polymorphism | p.GLU159LYS | N/A | | Swiss-Prot | VAR_015655 | Polymorphism | p.HIS102ARG | N/A | | dbSNP | rs3219154 | Polymorphism | p.ILE94VAL | N/A | | Swiss-Prot | VAR_036749 | Polymorphism | p.SER1255PHE | N/A | | dbSNP | rs3219156 | Polymorphism | p.VAL368MET | N/A | | OMIM | 606352.0010 | Disease | p.ARG998TER | SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING | | OMIM | 606352.0012 | Disease | p.CYS156TYR | SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING | | OMIM | 606352.0014 | Disease | p.GLN715TER | SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING |
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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296434394
ALS2_HUMAN RecName: Full=Alsin; AltName: Full=Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein; AltName: Full=Amyotrophic lateral sclerosis 2 protein
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