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Known Diseases associated with this Protein: | FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2 (FSHD2)
| FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2, DIGENIC
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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_069068 | Disease | p.ARG479PRO | Facioscapulohumeral muscular dystrophy 2 (FSHD2) | Swiss-Prot | VAR_069069 | Disease | p.CYS492ARG | Facioscapulohumeral muscular dystrophy 2 (FSHD2) | dbSNP | rs9961682 | Polymorphism | p.ILE960VAL | N/A | dbSNP | rs633422 | Polymorphism | p.LYS879ASN | N/A | Swiss-Prot | VAR_069072 | Disease | p.PHE1554SER | Facioscapulohumeral muscular dystrophy 2 (FSHD2) | Swiss-Prot | VAR_069070 | Disease | p.PRO690SER | Facioscapulohumeral muscular dystrophy 2 (FSHD2) | Swiss-Prot | VAR_069071 | Disease | p.SER868ASN | Facioscapulohumeral muscular dystrophy 2 (FSHD2) | Swiss-Prot | VAR_069067 | Disease | p.TYR353CYS | Facioscapulohumeral muscular dystrophy 2 (FSHD2) | dbSNP | rs2276092 | Polymorphism | p.VAL708ILE | N/A | OMIM | 614982.0002 | Disease | p.PRO690SER | FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2, DIGENIC | OMIM | 614982.0006 | Disease | p.THR527MET | FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2, DIGENIC | OMIM | 614982.0005 | Disease | p.THR1522THR | FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2, DIGENIC |
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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