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Known Diseases associated with this Protein: |  CENTRAL CORE DISEASE
| CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE
| CENTRAL CORE DISEASE, INCLUDED
| KING-DENBOROUGH SYNDROME
| MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1
| MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1, INCLUDED
| MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA
| MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, INCLUDED
| NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, INCLUDED
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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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| dbSNP | rs4802584 | Polymorphism | p.GLN3751GLU | N/A | | dbSNP | rs35364374 | Polymorphism | p.GLY2060CYS | N/A | | dbSNP | rs34694816 | Polymorphism | p.SER1342GLY | N/A | | OMIM | 180901.0004 | Disease | p.ARG163CYS | MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1||CENTRAL CORE DISEASE, INCLUDED | | OMIM | 180901.0010 | Disease | p.ARG2163CYS | MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 | | OMIM | 180901.0008 | Disease | p.ARG2458CYS | MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 | | OMIM | 180901.0001 | Disease | p.ARG614CYS | MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 | | OMIM | 180901.0002 | Disease | p.ARG248GLY | MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 | | OMIM | 180901.0011 | Disease | p.ARG2163HIS | MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1||CENTRAL CORE DISEASE, INCLUDED | | OMIM | 180901.0003 | Disease | p.ARG2435HIS | CENTRAL CORE DISEASE | | OMIM | 180901.0009 | Disease | p.ARG2458HIS | MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 | | OMIM | 180901.0019 | Disease | p.ARG4856HIS | CENTRAL CORE DISEASE||NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, INCLUDED | | OMIM | 180901.0026 | Disease | p.ARG109TRP | MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA | | OMIM | 180901.0023 | Disease | p.ARG2676TRP | MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 | | OMIM | 180901.0007 | Disease | p.GLY2434ARG | MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 | | OMIM | 180901.0006 | Disease | p.GLY341ARG | MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 | | OMIM | 180901.0005 | Disease | p.ILE403MET | CENTRAL CORE DISEASE | | OMIM | 180901.0012 | Disease | p.ILE4893THR | CENTRAL CORE DISEASE||MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1, INCLUDED | | OMIM | 180901.0038 | Disease | p.LYS33GLU | KING-DENBOROUGH SYNDROME | | OMIM | 180901.0027 | Disease | p.MET2423LYS | MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA | | OMIM | 180901.0021 | Disease | p.PRO3522SER | CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE | | OMIM | 180901.0029 | Disease | p.SER3450PHE | MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA | | OMIM | 180901.0030 | Disease | p.THR4632ALA | CENTRAL CORE DISEASE | | OMIM | 180901.0015 | Disease | p.THR4821ILE | MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 | | OMIM | 180901.0014 | Disease | p.THR2206MET | MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 | | OMIM | 180901.0023 | Disease | p.THR2787SER | MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 | | OMIM | 180901.0016 | Disease | p.TYR4791CYS | CENTRAL CORE DISEASE||MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1, INCLUDED | | OMIM | 180901.0031 | Disease | p.TYR522SER | MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1||CENTRAL CORE DISEASE, INCLUDED | | OMIM | 180901.0022 | Disease | p.VAL4844ILE | CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE||MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, INCLUDED | | OMIM | 180901.0013 | Disease | p.VAL2168MET | MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 |
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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113204617
ryanodine receptor 1 isoform 2 [Homo sapiens]
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