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Known Diseases associated with this Protein: |  HYPOGONADISM
| HYPOGONADOTROPIC HYPOGONADISM
| LEUKODYSTROPHY, HYPOMYELINATING
| LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OLIGODONTIA
| LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OLIGODONTIA AND HYPOGONADOTROPIC
| LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR
| LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (HLD7)
| LEUKODYSTROPHY, HYPOMYELINATING, 7, WITHOUT OLIGODONTIA 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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 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_066523 | Disease | p.ARG1005CYS | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) | | Swiss-Prot | VAR_051873 | Polymorphism | p.ARG582LEU | N/A | | Swiss-Prot | VAR_066521 | Disease | p.ASN775ILE | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) | | Swiss-Prot | VAR_066516 | Disease | p.ASP372ASN | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) | | Swiss-Prot | VAR_066520 | Disease | p.CYS724TYR | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) | | Swiss-Prot | VAR_066519 | Disease | p.GLY672GLU | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) | | Swiss-Prot | VAR_067004 | Disease | p.ILE897ASN | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) | | dbSNP | rs35354908 | Polymorphism | p.LYS713ASN | N/A | | Swiss-Prot | VAR_066522 | Disease | p.MET852VAL | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) | | Swiss-Prot | VAR_066517 | Disease | p.PHE558LEU | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) | | Swiss-Prot | VAR_066518 | Disease | p.SER636TYR | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) | | OMIM | 614258.0007 | Disease | p.ARG1005CYS | LEUKODYSTROPHY, HYPOMYELINATING, 7, WITHOUT OLIGODONTIA OR HYPOGONADOTROPIC||HYPOGONADISM | | OMIM | 614258.0005 | Disease | p.ARG140TER | LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OLIGODONTIA | | OMIM | 614258.0001 | Disease | p.GLY672GLU | LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR||HYPOGONADOTROPIC HYPOGONADISM | | OMIM | 614258.0006 | Disease | p.ILE897ASN | LEUKODYSTROPHY, HYPOMYELINATING, 7, WITHOUT OLIGODONTIA OR HYPOGONADOTROPIC||HYPOGONADISM | | OMIM | 614258.0003 | Disease | p.MET852VAL | LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OLIGODONTIA AND HYPOGONADOTROPIC||HYPOGONADISM||LEUKODYSTROPHY, HYPOMYELINATING |
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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206729892
RPC1_HUMAN RecName: Full=DNA-directed RNA polymerase III subunit RPC1; Short=RNA polymerase III subunit C1; AltName: Full=DNA-directed RNA polymerase III largest subunit; AltName: Full=DNA-directed RNA polymerase III subunit A; AltName: Full=RNA polymerase III 155 kDa subunit; Short=RPC155; AltName: Full=RNA polymerase III subunit C160
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