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Known Diseases associated with this Protein: |  HYPOGONADISM
| LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH HYPODONTIA AND HYPOGONADOTROPIC
| LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (HLD8)
| LEUKODYSTROPHY, HYPOMYELINATING, 8, WITHOUT HYPODONTIA AND WITH HYPOGONADOTROPIC
| LEUKODYSTROPHY, HYPOMYELINATING, 8, WITHOUT HYPODONTIA OR HYPOGONADOTROPIC
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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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| Swiss-Prot | VAR_067008 | Disease | p.ARG768HIS | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD8) | | Swiss-Prot | VAR_067009 | Disease | p.ASP926GLU | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD8) | | dbSNP | rs17038460 | Polymorphism | p.THR740ALA | N/A | | Swiss-Prot | VAR_067005 | Disease | p.THR503LYS | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD8) | | Swiss-Prot | VAR_067006 | Disease | p.VAL523GLU | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD8) | | OMIM | 614366.0002 | Disease | p.ARG768HIS | LEUKODYSTROPHY, HYPOMYELINATING, 8, WITHOUT HYPODONTIA AND WITH HYPOGONADOTROPIC||HYPOGONADISM | | OMIM | 614366.0003 | Disease | p.ARG550TER | LEUKODYSTROPHY, HYPOMYELINATING, 8, WITHOUT HYPODONTIA OR HYPOGONADOTROPIC||HYPOGONADISM | | OMIM | 614366.0004 | Disease | p.ASP926GLU | LEUKODYSTROPHY, HYPOMYELINATING, 8, WITHOUT HYPODONTIA OR HYPOGONADOTROPIC||HYPOGONADISM | | OMIM | 614366.0008 | Disease | p.LYS896TER | LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH HYPODONTIA AND HYPOGONADOTROPIC||HYPOGONADISM | | OMIM | 614366.0006 | Disease | p.THR503LYS | LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH HYPODONTIA AND HYPOGONADOTROPIC||HYPOGONADISM | | OMIM | 614366.0005 | Disease | p.VAL523GLU | 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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29428029
RPC2_HUMAN RecName: Full=DNA-directed RNA polymerase III subunit RPC2; Short=RNA polymerase III subunit C2; AltName: Full=C128; AltName: Full=DNA-directed RNA polymerase III 127.6 kDa polypeptide; AltName: Full=DNA-directed RNA polymerase III subunit B
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