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Known Diseases associated with this Protein: | MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
| MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (LMPS)
| MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL
| MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL (FCCMS)
| MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL
| MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL (SCCMS)
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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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Swiss-Prot | VAR_036031 | Polymorphism | p.ASP398GLU | N/A | Swiss-Prot | VAR_021212 | Disease | p.GLN288GLU | Myasthenic syndrome, congenital, slow-channel (SCCMS) | Swiss-Prot | VAR_021210 | Disease | p.GLU80LYS | Myasthenic syndrome, congenital, fast-channel (FCCMS) | Swiss-Prot | VAR_043905 | Disease | p.PHE95LEU | Multiple pterygium syndrome, lethal type (LMPS) | Swiss-Prot | VAR_021211 | Disease | p.PRO271GLN | Myasthenic syndrome, congenital, fast-channel (FCCMS) | Swiss-Prot | VAR_019566 | Disease | p.SER289PHE | Myasthenic syndrome, congenital, slow-channel (SCCMS) | OMIM | 100720.0007 | Disease | p.ARG443TER | MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE | OMIM | 100720.0003 | Disease | p.GLU59LYS | MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL | OMIM | 100720.0009 | Disease | p.ILE58LYS | MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL | OMIM | 100720.0008 | Disease | p.LEU42PRO | MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL | OMIM | 100720.0006 | Disease | p.PHE74LEU | MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE | OMIM | 100720.0002 | Disease | p.PRO250GLN | MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL | OMIM | 100720.0001 | Disease | p.SER268PHE | MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL | OMIM | 100720.0005 | Disease | p.TRP57TER | MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE |
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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