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Known Diseases associated with this Protein: |  DEFICIENCY
| MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR
| MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (CMS-ACHRD)
| MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL
| MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL (FCCMS)
| MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL
| MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL (SCCMS)
| MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL, AUTOSOMAL RECESSIVE
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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_021215 | Disease | p.ALA431PRO | Myasthenic syndrome, congenital, fast-channel (FCCMS) | | Swiss-Prot | VAR_000290 | Disease | p.ARG167LEU | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency (CMS-ACHRD) | | Swiss-Prot | VAR_000294 | Disease | p.ARG331TRP | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency (CMS-ACHRD) | | Swiss-Prot | VAR_021213 | Disease | p.GLY13ARG | Myasthenic syndrome, congenital, fast-channel (FCCMS) | | dbSNP | rs4790235 | Polymorphism | p.GLY18VAL | N/A | | Swiss-Prot | VAR_019568 | Disease | p.LEU241PHE | Myasthenic syndrome, congenital, slow-channel (SCCMS) | | Swiss-Prot | VAR_000293 | Disease | p.LEU289PHE | Myasthenic syndrome, congenital, slow-channel (SCCMS) | | Swiss-Prot | VAR_019567 | Disease | p.LEU98PRO | Myasthenic syndrome, congenital, slow-channel (SCCMS) | | Swiss-Prot | VAR_000289 | Disease | p.PRO141LEU | Myasthenic syndrome, congenital, fast-channel (FCCMS) | | Swiss-Prot | VAR_000291 | Disease | p.PRO265LEU | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency (CMS-ACHRD) | | Swiss-Prot | VAR_021214 | Disease | p.SER163LEU | Myasthenic syndrome, congenital, fast-channel (FCCMS) | | Swiss-Prot | VAR_000292 | Disease | p.THR284PRO | Myasthenic syndrome, congenital, slow-channel (SCCMS) | | OMIM | 100725.0019 | Disease | p.ALA411PRO | MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL | | OMIM | 100725.0005 | Disease | p.ARG147LEU | MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR||DEFICIENCY | | OMIM | 100725.0023 | Disease | p.ARG217LEU | MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL, AUTOSOMAL RECESSIVE | | OMIM | 100725.0004 | Disease | p.ARG64TER | MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR||DEFICIENCY | | OMIM | 100725.0016 | Disease | p.ARG311TRP | MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR||DEFICIENCY | | OMIM | 100725.0010 | Disease | p.LEU221PHE | MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL | | OMIM | 100725.0002 | Disease | p.LEU269PHE | MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL | | OMIM | 100725.0003 | Disease | p.PRO121LEU | MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL | | OMIM | 100725.0018 | Disease | p.SER143LEU | MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL | | OMIM | 100725.0001 | Disease | p.THR264PRO | MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL | | OMIM | 100725.0021 | Disease | p.TRP55ARG | MYASTHENIC SYNDROME, CONGENITAL, FAST-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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1168301
ACHE_HUMAN RecName: Full=Acetylcholine receptor subunit epsilon; Flags: Precursor
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