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Known Diseases associated with this Protein: |  NEMALINE MYOPATHY 6
| NEMALINE MYOPATHY 6 (NEM6)
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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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| dbSNP | rs2919358 | Polymorphism | p.ALA81VAL | N/A | | Swiss-Prot | VAR_064891 | Disease | p.ARG408CYS | Nemaline myopathy 6 (NEM6) | | Swiss-Prot | VAR_064889 | Disease | p.ARG248SER | Nemaline myopathy 6 (NEM6) | | Swiss-Prot | VAR_064890 | Disease | p.LYS390ASN | Nemaline myopathy 6 (NEM6) | | OMIM | 613727.0002 | Disease | p.ARG408CYS | NEMALINE MYOPATHY 6 | | OMIM | 613727.0003 | Disease | p.ARG248SER | NEMALINE MYOPATHY 6 | | OMIM | 613727.0001 | Disease | p.LYS390ASN | NEMALINE MYOPATHY 6 |
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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296439656
KBTBD_HUMAN RecName: Full=Kelch repeat and BTB domain-containing protein 13
6
1
3
1
3
