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Known Diseases associated with this Protein: |  PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATING LEUKODYSTROPHY, WAARDENBURG SYNDROME AND HIRSCHSPRUNG DISEAS
| PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG
| SYNDROME, AND HIRSCHSPRUNG DISEASE
| WAARDENBURG SYNDROME 2E (WS2E)
| WAARDENBURG SYNDROME 4C (WS4C)
| WAARDENBURG SYNDROME, TYPE 2E, WITH NEUROLOGIC INVOLVEMENT
| WAARDENBURG SYNDROME, TYPE 2E, WITH NEUROLOGIC INVOLVEMENT, INCLUDED
| WAARDENBURG SYNDROME, TYPE 2E, WITHOUT NEUROLOGIC INVOLVEMENT
| WAARDENBURG SYNDROME, TYPE 4C
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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 | Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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| HMG | smart00398 | 1.9e-27 | 103 | 172 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_066752 | Disease | p.ALA157VAL | Waardenburg syndrome 4C (WS4C) | | Swiss-Prot | VAR_066753 | Disease | p.ARG161HIS | Waardenburg syndrome 2E (WS2E) | | Swiss-Prot | VAR_066747 | Disease | p.ARG106TRP | Waardenburg syndrome 4C (WS4C) | | Swiss-Prot | VAR_066749 | Disease | p.ASN131HIS | Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung diseas | | Swiss-Prot | VAR_066754 | Disease | p.GLN174PRO | Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung diseas | | Swiss-Prot | VAR_066758 | Disease | p.GLY321ARG | Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung diseas | | Swiss-Prot | VAR_066750 | Disease | p.LEU145PRO | Waardenburg syndrome 4C (WS4C) | | Swiss-Prot | VAR_066751 | Disease | p.LYS150ASN | Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung diseas | | Swiss-Prot | VAR_066748 | Disease | p.MET112ILE | Waardenburg syndrome 2E (WS2E) | | Swiss-Prot | VAR_066755 | Disease | p.PRO175ALA | Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung diseas | | Swiss-Prot | VAR_066757 | Disease | p.PRO175ARG | Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung diseas | | Swiss-Prot | VAR_066756 | Disease | p.PRO175LEU | Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung diseas | | Swiss-Prot | VAR_021386 | Disease | p.SER135THR | Waardenburg syndrome 2E (WS2E) | | OMIM | 602229.0016 | Disease | p.ALA157VAL | WAARDENBURG SYNDROME, TYPE 4C | | OMIM | 602229.0018 | Disease | p.GLN174PRO | WAARDENBURG SYNDROME, TYPE 2E, WITH NEUROLOGIC INVOLVEMENT | | OMIM | 602229.0011 | Disease | p.GLN250TER | PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG||SYNDROME, AND HIRSCHSPRUNG DISEASE | | OMIM | 602229.0010 | Disease | p.GLN377TER | WAARDENBURG SYNDROME, TYPE 4C||WAARDENBURG SYNDROME, TYPE 2E, WITH NEUROLOGIC INVOLVEMENT, INCLUDED | | OMIM | 602229.0001 | Disease | p.GLU189TER | WAARDENBURG SYNDROME, TYPE 4C | | OMIM | 602229.0007 | Disease | p.SER251TER | PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG||SYNDROME, AND HIRSCHSPRUNG DISEASE | | OMIM | 602229.0005 | Disease | p.SER135THR | WAARDENBURG SYNDROME, TYPE 2E, WITHOUT NEUROLOGIC INVOLVEMENT | | OMIM | 602229.0009 | Disease | p.TYR207TER | WAARDENBURG SYNDROME, TYPE 4C | | OMIM | 602229.0006 | Disease | p.TYR313TER | PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG||SYNDROME, AND HIRSCHSPRUNG DISEASE | | OMIM | 602229.0002 | Disease | p.TYR83TER | WAARDENBURG SYNDROME, TYPE 4C |
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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6175075
SOX10_HUMAN RecName: Full=Transcription factor SOX-10
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