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Known Diseases associated with this Protein: | CHARCOT-MARIE-TOOTH DISEASE 2M (CMT2M)
| CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M
| CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA
| CHARCOT-MARIE-TOOTH DISEASE, DOMINANT, INTERMEDIATE TYPE, B (CMTDIB)
| LETHAL CONGENITAL CONTRACTURE SYNDROME 5 (1 FAMILY)
| LETHAL CONGENITAL CONTRACTURE SYNDROME 5 (LCCS5)
| MYOPATHY, CENTRONUCLEAR, 1
| MYOPATHY, CENTRONUCLEAR, 1 (CNM1)
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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_068370 | Disease | p.ALA618ASP | Myopathy, centronuclear, 1 (CNM1) | Swiss-Prot | VAR_039041 | Disease | p.ALA618THR | Myopathy, centronuclear, 1 (CNM1) | Swiss-Prot | VAR_068366 | Disease | p.ARG522CYS | Myopathy, centronuclear, 1 (CNM1) | Swiss-Prot | VAR_031963 | Disease | p.ARG369GLN | Myopathy, centronuclear, 1 (CNM1) | Swiss-Prot | VAR_068368 | Disease | p.ARG523GLY | Myopathy, centronuclear, 1 (CNM1) | Swiss-Prot | VAR_068367 | Disease | p.ARG522HIS | Myopathy, centronuclear, 1 (CNM1) | Swiss-Prot | VAR_031964 | Disease | p.ARG369TRP | Myopathy, centronuclear, 1 (CNM1) | Swiss-Prot | VAR_031965 | Disease | p.ARG465TRP | Myopathy, centronuclear, 1 (CNM1) | Swiss-Prot | VAR_068365 | Disease | p.GLU368GLN | Myopathy, centronuclear, 1 (CNM1) | Swiss-Prot | VAR_031962 | Disease | p.GLU368LYS | Myopathy, centronuclear, 1 (CNM1) | Swiss-Prot | VAR_068369 | Disease | p.GLU560LYS | Myopathy, centronuclear, 1 (CNM1) | Swiss-Prot | VAR_062576 | Disease | p.GLU650LYS | Myopathy, centronuclear, 1 (CNM1) | Swiss-Prot | VAR_068425 | Disease | p.GLY358ARG | Charcot-Marie-Tooth disease 2M (CMT2M) | Swiss-Prot | VAR_062574 | Disease | p.GLY537CYS | Charcot-Marie-Tooth disease 2M (CMT2M) | Swiss-Prot | VAR_062575 | Disease | p.LEU570HIS | Charcot-Marie-Tooth disease 2M (CMT2M) | Swiss-Prot | VAR_068371 | Disease | p.LEU621PRO | Myopathy, centronuclear, 1 (CNM1) | Swiss-Prot | VAR_031967 | Disease | p.LYS562GLU | Charcot-Marie-Tooth disease, dominant, intermediate type, B (CMTDIB) | Swiss-Prot | VAR_070163 | Disease | p.PHE379VAL | Lethal congenital contracture syndrome 5 (LCCS5) | Swiss-Prot | VAR_068373 | Disease | p.PRO627ARG | Myopathy, centronuclear, 1 (CNM1) | Swiss-Prot | VAR_068372 | Disease | p.PRO627HIS | Myopathy, centronuclear, 1 (CNM1) | Swiss-Prot | VAR_031961 | Polymorphism | p.PRO263LEU | N/A | Swiss-Prot | VAR_039042 | Disease | p.SER619LEU | Myopathy, centronuclear, 1 (CNM1) | Swiss-Prot | VAR_039043 | Disease | p.SER619TRP | Myopathy, centronuclear, 1 (CNM1) | OMIM | 602378.0004 | Disease | p.ARG369GLN | MYOPATHY, CENTRONUCLEAR, 1 | OMIM | 602378.0005 | Disease | p.ARG369TRP | MYOPATHY, CENTRONUCLEAR, 1 | OMIM | 602378.0006 | Disease | p.ARG465TRP | MYOPATHY, CENTRONUCLEAR, 1 | OMIM | 602378.0007 | Disease | p.GLU368LYS | MYOPATHY, CENTRONUCLEAR, 1 | OMIM | 602378.0012 | Disease | p.GLY358ARG | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M | OMIM | 602378.0008 | Disease | p.GLY533CYS | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M | OMIM | 602378.0009 | Disease | p.LEU566HIS | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M | OMIM | 602378.0002 | Disease | p.LYS558GLU | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA | OMIM | 602378.0013 | Disease | p.PHE379VAL | LETHAL CONGENITAL CONTRACTURE SYNDROME 5 (1 family) | OMIM | 602378.0010 | Disease | p.SER619LEU | MYOPATHY, CENTRONUCLEAR, 1 | OMIM | 602378.0011 | Disease | p.SER619TRP | MYOPATHY, CENTRONUCLEAR, 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
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