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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 | rs17038460 | Polymorphism | p.THR682ALA | N/A | | OMIM | 614366.0002 | Disease | p.ARG710HIS | LEUKODYSTROPHY, HYPOMYELINATING, 8, WITHOUT HYPODONTIA AND WITH HYPOGONADOTROPIC||HYPOGONADISM | | OMIM | 614366.0003 | Disease | p.ARG492TER | LEUKODYSTROPHY, HYPOMYELINATING, 8, WITHOUT HYPODONTIA OR HYPOGONADOTROPIC||HYPOGONADISM | | OMIM | 614366.0004 | Disease | p.ASP868GLU | LEUKODYSTROPHY, HYPOMYELINATING, 8, WITHOUT HYPODONTIA OR HYPOGONADOTROPIC||HYPOGONADISM | | OMIM | 614366.0008 | Disease | p.LYS838TER | LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH HYPODONTIA AND HYPOGONADOTROPIC||HYPOGONADISM | | OMIM | 614366.0006 | Disease | p.THR445LYS | LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH HYPODONTIA AND HYPOGONADOTROPIC||HYPOGONADISM | | OMIM | 614366.0005 | Disease | p.VAL465GLU | LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH HYPODONTIA AND HYPOGONADOTROPIC||HYPOGONADISM |
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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238908505
DNA-directed RNA polymerase III subunit RPC2 isoform 2 [Homo sapiens]
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