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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 Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_043904 | Disease | p.ARG254LEU | Multiple pterygium syndrome, lethal type (LMPS) | Swiss-Prot | VAR_000284 | Disease | p.ASN262LYS | Myasthenic syndrome, congenital, slow-channel (SCCMS) | dbSNP | rs6739001 | Polymorphism | p.ASP383VAL | N/A | Swiss-Prot | VAR_038601 | Disease | p.CYS463TRP | Myasthenic syndrome, congenital, slow-channel (SCCMS) | Swiss-Prot | VAR_000282 | Disease | p.GLY198SER | Myasthenic syndrome, congenital, slow-channel (SCCMS) | Swiss-Prot | VAR_021208 | Disease | p.PHE301LEU | Myasthenic syndrome, congenital, fast-channel (FCCMS) | Swiss-Prot | VAR_021206 | Disease | p.PHE278VAL | Myasthenic syndrome, congenital, fast-channel (FCCMS) | Swiss-Prot | VAR_000286 | Disease | p.SER314ILE | Myasthenic syndrome, congenital, slow-channel (SCCMS) | Swiss-Prot | VAR_000285 | Disease | p.THR299ILE | Myasthenic syndrome, congenital, slow-channel (SCCMS) | Swiss-Prot | VAR_021209 | Disease | p.VAL330ILE | Myasthenic syndrome, congenital, fast-channel (FCCMS) | Swiss-Prot | VAR_038599 | Disease | p.VAL177LEU | Myasthenic syndrome, congenital, fast-channel (FCCMS) | Swiss-Prot | VAR_000283 | Disease | p.VAL201MET | Myasthenic syndrome, congenital, slow-channel (SCCMS) | Swiss-Prot | VAR_021207 | Disease | p.VAL294PHE | Myasthenic syndrome, congenital, slow-channel (SCCMS) | OMIM | 100690.0013 | Disease | p.ARG254LEU | MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE | OMIM | 100690.0016 | Disease | p.ARG313TRP | MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL | OMIM | 100690.0001 | Disease | p.ASN217LYS | MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL | OMIM | 100690.0012 | Disease | p.CYS418TRP | MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL | OMIM | 100690.0004 | Disease | p.GLY153SER | MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL | OMIM | 100690.0009 | Disease | p.PHE256LEU | MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL | OMIM | 100690.0008 | Disease | p.PHE233VAL | MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL | OMIM | 100690.0005 | Disease | p.SER269ILE | MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL | OMIM | 100690.0003 | Disease | p.THR254ILE | MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL | OMIM | 100690.0007 | Disease | p.VAL285ILE | MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL | OMIM | 100690.0010 | Disease | p.VAL132LEU | MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL | OMIM | 100690.0002 | Disease | p.VAL156MET | MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL | OMIM | 100690.0006 | Disease | p.VAL249PHE | MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL |
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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