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Known Diseases associated with this Protein: | MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME
| MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME (MCTO)
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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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BRLZ | smart00338 | 1.3e-11 | 236 | 300 |
Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_067982 | Disease | p.PRO63ARG | Multicentric carpotarsal osteolysis syndrome (MCTO) | Swiss-Prot | VAR_067980 | Disease | p.PRO59LEU | Multicentric carpotarsal osteolysis syndrome (MCTO) | Swiss-Prot | VAR_067987 | Disease | p.PRO71LEU | Multicentric carpotarsal osteolysis syndrome (MCTO) | Swiss-Prot | VAR_067988 | Disease | p.PRO71SER | Multicentric carpotarsal osteolysis syndrome (MCTO) | Swiss-Prot | VAR_067985 | Disease | p.SER70ALA | Multicentric carpotarsal osteolysis syndrome (MCTO) | Swiss-Prot | VAR_067983 | Disease | p.SER66CYS | Multicentric carpotarsal osteolysis syndrome (MCTO) | Swiss-Prot | VAR_067979 | Disease | p.SER54LEU | Multicentric carpotarsal osteolysis syndrome (MCTO) | Swiss-Prot | VAR_067984 | Disease | p.SER69LEU | Multicentric carpotarsal osteolysis syndrome (MCTO) | Swiss-Prot | VAR_067986 | Disease | p.SER70LEU | Multicentric carpotarsal osteolysis syndrome (MCTO) | Swiss-Prot | VAR_067981 | Disease | p.THR62PRO | Multicentric carpotarsal osteolysis syndrome (MCTO) | OMIM | 608968.0006 | Disease | p.PRO54LEU | MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME | OMIM | 608968.0005 | Disease | p.PRO71LEU | MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME | OMIM | 608968.0004 | Disease | p.PRO71SER | MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME | OMIM | 608968.0002 | Disease | p.SER70ALA | MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME | OMIM | 608968.0003 | Disease | p.SER70LEU | MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME | OMIM | 608968.0001 | Disease | p.THR62PRO | MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME |
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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