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Known Diseases associated with this Protein: | XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP E (XP-E)
| XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E, DDB-NEGATIVE FORM
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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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WD40 | smart00320 | 0.00025 | 278 | 316 |
Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_016338 | Polymorphism | p.ALA293THR | N/A | Swiss-Prot | VAR_010142 | Disease | p.ARG273HIS | Xeroderma pigmentosum complementation group E (XP-E) | Swiss-Prot | VAR_010141 | Disease | p.LYS244GLU | Xeroderma pigmentosum complementation group E (XP-E) | Swiss-Prot | VAR_016337 | Polymorphism | p.MET215THR | N/A | OMIM | 600811.0002 | Disease | p.ARG273HIS | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E, DDB-NEGATIVE FORM | OMIM | 600811.0003 | Disease | p.ARG313TER | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E, DDB-NEGATIVE FORM | OMIM | 600811.0004 | Disease | p.ASP307TYR | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E, DDB-NEGATIVE FORM | OMIM | 600811.0001 | Disease | p.LYS244GLU | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E, DDB-NEGATIVE FORM |
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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