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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_025381 | Disease | p.ALA205PRO | Cockayne syndrome A (CSA) | | Swiss-Prot | VAR_063507 | Disease | p.ALA160THR | Cockayne syndrome A (CSA) | | Swiss-Prot | VAR_025380 | Disease | p.ALA160VAL | Cockayne syndrome A (CSA) | | Swiss-Prot | VAR_063510 | Disease | p.ASP266GLY | Cockayne syndrome A (CSA) | | Swiss-Prot | VAR_063509 | Disease | p.LEU202SER | Cockayne syndrome A (CSA) | | Swiss-Prot | VAR_053392 | Polymorphism | p.SER150CYS | N/A | | Swiss-Prot | VAR_063508 | Disease | p.TRP194CYS | Cockayne syndrome A (CSA) | | Swiss-Prot | VAR_068177 | Disease | p.TRP361CYS | UV-sensitive syndrome 2 (UVSS2) | | Swiss-Prot | VAR_016319 | Polymorphism | p.TYR200CYS | N/A | | OMIM | 609412.0005 | Disease | p.ALA205PRO | COCKAYNE SYNDROME A | | OMIM | 609412.0004 | Disease | p.ALA160VAL | COCKAYNE SYNDROME A | | OMIM | 609412.0003 | Disease | p.GLU13TER | COCKAYNE SYNDROME A | | OMIM | 609412.0006 | Disease | p.TRP361CYS | UV-SENSITIVE SYNDROME 2 | | OMIM | 609412.0002 | Disease | p.TYR322TER | COCKAYNE SYNDROME A |
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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3121917
ERCC8_HUMAN RecName: Full=DNA excision repair protein ERCC-8; AltName: Full=Cockayne syndrome WD repeat protein CSA
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