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Known Diseases associated with this Protein: | GLYCOGEN STORAGE DISEASE 5 (GSD5)
| MCARDLE DISEASE
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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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Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_014008 | Disease | p.ALA660ASP | Glycogen storage disease 5 (GSD5) | Swiss-Prot | VAR_014012 | Disease | p.ALA687PRO | Glycogen storage disease 5 (GSD5) | Swiss-Prot | VAR_014013 | Disease | p.ALA704VAL | Glycogen storage disease 5 (GSD5) | dbSNP | rs11231866 | Polymorphism | p.ARG414GLY | N/A | Swiss-Prot | VAR_014003 | Disease | p.ARG194TRP | Glycogen storage disease 5 (GSD5) | Swiss-Prot | VAR_014007 | Disease | p.ARG602TRP | Glycogen storage disease 5 (GSD5) | Swiss-Prot | VAR_014010 | Disease | p.ASN685TYR | Glycogen storage disease 5 (GSD5) | Swiss-Prot | VAR_014009 | Disease | p.GLN666GLU | Glycogen storage disease 5 (GSD5) | Swiss-Prot | VAR_014005 | Disease | p.GLU349LYS | Glycogen storage disease 5 (GSD5) | Swiss-Prot | VAR_003434 | Disease | p.GLU655LYS | Glycogen storage disease 5 (GSD5) | Swiss-Prot | VAR_014011 | Disease | p.GLY686ARG | Glycogen storage disease 5 (GSD5) | Swiss-Prot | VAR_003431 | Disease | p.GLY205SER | Glycogen storage disease 5 (GSD5) | Swiss-Prot | VAR_014002 | Disease | p.LEU116PRO | Glycogen storage disease 5 (GSD5) | Swiss-Prot | VAR_014004 | Disease | p.LEU292PRO | Glycogen storage disease 5 (GSD5) | Swiss-Prot | VAR_003432 | Disease | p.LEU397PRO | Glycogen storage disease 5 (GSD5) | Swiss-Prot | VAR_003433 | Disease | p.LYS543THR | Glycogen storage disease 5 (GSD5) | Swiss-Prot | VAR_014006 | Disease | p.THR488ASN | Glycogen storage disease 5 (GSD5) | dbSNP | rs71581787 | Polymorphism | p.THR395MET | N/A | Swiss-Prot | VAR_014015 | Disease | p.TRP798ARG | Glycogen storage disease 5 (GSD5) | OMIM | 608455.0001 | Disease | p.ARG50TER | MCARDLE DISEASE | OMIM | 608455.0009 | Disease | p.ARG575TER | MCARDLE DISEASE | OMIM | 608455.0020 | Disease | p.ASP51GLY | MCARDLE DISEASE | OMIM | 608455.0010 | Disease | p.GLN665GLU | MCARDLE DISEASE | OMIM | 608455.0005 | Disease | p.GLU654LYS | MCARDLE DISEASE | OMIM | 608455.0013 | Disease | p.GLU540TER | MCARDLE DISEASE | OMIM | 608455.0008 | Disease | p.GLY685ARG | MCARDLE DISEASE | OMIM | 608455.0002 | Disease | p.GLY205SER | MCARDLE DISEASE | OMIM | 608455.0006 | Disease | p.LEU396PRO | MCARDLE DISEASE | OMIM | 608455.0016 | Disease | p.LYS608LYS | MCARDLE DISEASE | OMIM | 608455.0003 | Disease | p.LYS543THR | MCARDLE DISEASE | OMIM | 608455.0015 | Disease | p.TRP797ARG | MCARDLE DISEASE | OMIM | 608455.0017 | Disease | p.TYR573TER | MCARDLE DISEASE |
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.
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