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Known Diseases associated with this Protein: | EPISODIC ATAXIA, TYPE 2
| EPISODIC ATAXIA, TYPE 2, AND EPILEPSY
| EPISODIC ATAXIA, TYPE 2, INCLUDED
| INCLUDED;;
| MIGR
| MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA
| MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA,
| MIGRAINE, FAMILIAL HEMIPLEGIC, 1
| MIGRAINE, FAMILIAL HEMIPLEGIC, 1, INCLUDED
| SPINOCEREBELLAR ATAXIA 6
| SPINOCEREBELLAR ATAXIA 6, 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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Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs16022 | Polymorphism | p.GLU918ASP | N/A | dbSNP | rs16023 | Polymorphism | p.GLU993VAL | N/A | dbSNP | rs16027 | Polymorphism | p.GLY1105SER | N/A | dbSNP | rs28413664 | Polymorphism | p.PRO1011ALA | N/A | OMIM | 601011.0027 | Disease | p.ARG1344GLN | MIGRAINE, FAMILIAL HEMIPLEGIC, 1 | OMIM | 601011.0001 | Disease | p.ARG192GLN | MIGRAINE, FAMILIAL HEMIPLEGIC, 1 | OMIM | 601011.0018 | Disease | p.ARG583GLN | MIGRAINE, FAMILIAL HEMIPLEGIC, 1||MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA,||INCLUDED;;||MIGR | OMIM | 601011.0011 | Disease | p.ARG1662HIS | EPISODIC ATAXIA, TYPE 2 | OMIM | 601011.0020 | Disease | p.ARG1278TER | EPISODIC ATAXIA, TYPE 2 | OMIM | 601011.0021 | Disease | p.ARG1546TER | EPISODIC ATAXIA, TYPE 2 | OMIM | 601011.0023 | Disease | p.ARG1816TER | EPISODIC ATAXIA, TYPE 2, AND EPILEPSY | OMIM | 601011.0010 | Disease | p.ASP715GLU | MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA||MIGRAINE, FAMILIAL HEMIPLEGIC, 1, INCLUDED | OMIM | 601011.0025 | Disease | p.CYS287TYR | EPISODIC ATAXIA, TYPE 2 | OMIM | 601011.0014 | Disease | p.GLU1753LYS | EPISODIC ATAXIA, TYPE 2 | OMIM | 601011.0009 | Disease | p.GLY293ARG | SPINOCEREBELLAR ATAXIA 6||EPISODIC ATAXIA, TYPE 2, INCLUDED | OMIM | 601011.0004 | Disease | p.ILE1807LEU | MIGRAINE, FAMILIAL HEMIPLEGIC, 1 | OMIM | 601011.0024 | Disease | p.ILE1706THR | MIGRAINE, FAMILIAL HEMIPLEGIC, 1||SPINOCEREBELLAR ATAXIA 6, INCLUDED | OMIM | 601011.0022 | Disease | p.PHE1403CYS | EPISODIC ATAXIA, TYPE 2 | OMIM | 601011.0012 | Disease | p.PHE1488SER | EPISODIC ATAXIA, TYPE 2 | OMIM | 601011.0017 | Disease | p.SER218LEU | MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA | OMIM | 601011.0002 | Disease | p.THR666MET | MIGRAINE, FAMILIAL HEMIPLEGIC, 1||MIGRAINE, FAMILIAL HEMIPLEGIC 1, WITH PROGRESSIVE CEREBELLAR ATAXIA,||INCLUDED;;||MIGR | OMIM | 601011.0013 | Disease | p.TYR1382CYS | MIGRAINE, FAMILIAL HEMIPLEGIC, 1 | OMIM | 601011.0003 | Disease | p.VAL714ALA | MIGRAINE, FAMILIAL HEMIPLEGIC, 1 | OMIM | 601011.0019 | Disease | p.VAL1454LEU | MIGRAINE, FAMILIAL HEMIPLEGIC, 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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