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Known Diseases associated with this Protein: | GLYCOGEN STORAGE DISEASE 0, MUSCLE
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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_014728 | Polymorphism | p.ASN283SER | N/A | Swiss-Prot | VAR_014731 | Polymorphism | p.GLU619GLN | N/A | Swiss-Prot | VAR_014729 | Polymorphism | p.GLU359GLY | N/A | Swiss-Prot | VAR_007859 | Polymorphism | p.GLY464SER | N/A | Swiss-Prot | VAR_037958 | Polymorphism | p.ILE108MET | N/A | Swiss-Prot | VAR_014727 | Polymorphism | p.LYS130GLU | N/A | dbSNP | rs5447 | Polymorphism | p.MET416VAL | N/A | Swiss-Prot | VAR_014732 | Polymorphism | p.PRO691ALA | N/A | OMIM | 138570.0001 | Disease | p.ARG462TER | GLYCOGEN STORAGE DISEASE 0, MUSCLE |
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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