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Known Diseases associated with this Protein: | MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES, 1 (CMSTA1)
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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_065342 | Disease | p.ARG111CYS | Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1) | Swiss-Prot | VAR_065346 | Disease | p.ARG403HIS | Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1) | Swiss-Prot | VAR_065347 | Disease | p.ARG452HIS | Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1) | Swiss-Prot | VAR_065350 | Disease | p.ARG514TRP | Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1) | Swiss-Prot | VAR_065351 | Disease | p.ARG530TRP | Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1) | Swiss-Prot | VAR_065345 | Disease | p.ASP366TYR | Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1) | Swiss-Prot | VAR_065341 | Disease | p.ASP43VAL | Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1) | Swiss-Prot | VAR_065343 | Disease | p.ILE121THR | Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1) | Swiss-Prot | VAR_065348 | Disease | p.MET509THR | Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1) | Swiss-Prot | VAR_065349 | Disease | p.MET510THR | Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1) | Swiss-Prot | VAR_065339 | Disease | p.THR15ALA | Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1) | Swiss-Prot | VAR_065340 | Disease | p.THR15MET | Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1) | Swiss-Prot | VAR_065344 | Disease | p.VAL199PHE | Myasthenic syndrome, congenital, with tubular aggregates, 1 (CMSTA1) |
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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