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Known Diseases associated with this Protein: | DYSKERATOSIS CONGENITA, X-LINKED
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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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OMIM | 300126.0006 | Disease | p.ALA353VAL | DYSKERATOSIS CONGENITA, X-LINKED | OMIM | 300126.0013 | Disease | p.GLN31LYS | DYSKERATOSIS CONGENITA, X-LINKED | OMIM | 300126.0005 | Disease | p.GLY402GLU | DYSKERATOSIS CONGENITA, X-LINKED | OMIM | 300126.0012 | Disease | p.ILE38THR | DYSKERATOSIS CONGENITA, X-LINKED | OMIM | 300126.0004 | Disease | p.LEU72TYR | DYSKERATOSIS CONGENITA, X-LINKED | OMIM | 300126.0001 | Disease | p.PHE36VAL | DYSKERATOSIS CONGENITA, X-LINKED | OMIM | 300126.0003 | Disease | p.PRO40ARG | DYSKERATOSIS CONGENITA, X-LINKED | OMIM | 300126.0011 | Disease | p.SER121GLY | DYSKERATOSIS CONGENITA, X-LINKED | OMIM | 300126.0014 | Disease | p.THR357ALA | DYSKERATOSIS CONGENITA, X-LINKED | OMIM | 300126.0010 | Disease | p.THR49MET | DYSKERATOSIS CONGENITA, X-LINKED |
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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