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Known Diseases associated with this Protein: | NEMALINE MYOPATHY 8
| NEMALINE MYOPATHY 8 (NEM8)
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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs6805421 | Polymorphism | p.ASN345SER | N/A | dbSNP | rs123509 | Polymorphism | p.CYS617ARG | N/A | Swiss-Prot | VAR_069846 | Disease | p.ALA538PRO | Nemaline myopathy 8 (NEM8) | Swiss-Prot | VAR_069840 | Disease | p.ARG311LEU | Nemaline myopathy 8 (NEM8) | Swiss-Prot | VAR_030214 | Polymorphism | p.ASN345SER | N/A | Swiss-Prot | VAR_069836 | Disease | p.ASP34HIS | Nemaline myopathy 8 (NEM8) | Swiss-Prot | VAR_030215 | Polymorphism | p.CYS617ARG | N/A | Swiss-Prot | VAR_069845 | Disease | p.GLU528LYS | Nemaline myopathy 8 (NEM8) | Swiss-Prot | VAR_069847 | Disease | p.GLU588LYS | Nemaline myopathy 8 (NEM8) | Swiss-Prot | VAR_069843 | Disease | p.GLY469CYS | Nemaline myopathy 8 (NEM8) | Swiss-Prot | VAR_069842 | Disease | p.HIS455ARG | Nemaline myopathy 8 (NEM8) | Swiss-Prot | VAR_069837 | Disease | p.LEU86PRO | Nemaline myopathy 8 (NEM8) | Swiss-Prot | VAR_069841 | Disease | p.PRO397LEU | Nemaline myopathy 8 (NEM8) | Swiss-Prot | VAR_069844 | Disease | p.THR506PRO | Nemaline myopathy 8 (NEM8) | Swiss-Prot | VAR_069839 | Disease | p.TRP201LEU | Nemaline myopathy 8 (NEM8) | Swiss-Prot | VAR_069838 | Disease | p.VAL194GLU | Nemaline myopathy 8 (NEM8) | OMIM | 615340.0004 | Disease | p.ALA538PRO | NEMALINE MYOPATHY 8 | OMIM | 615340.0001 | Disease | p.GLU528LYS | NEMALINE MYOPATHY 8 | OMIM | 615340.0002 | Disease | p.GLY469CYS | NEMALINE MYOPATHY 8 | OMIM | 615340.0003 | Disease | p.TRP201LEU | NEMALINE MYOPATHY 8 | OMIM | 615340.0005 | Disease | p.TRP201TER | NEMALINE MYOPATHY 8 |
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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