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Known Diseases associated with this Protein: | ENDOCRINE-CEREBROOSTEODYSPLASIA
| ENDOCRINE-CEREBROOSTEODYSPLASIA (ECO)
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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_042005 | Polymorphism | p.ALA615THR | N/A | Swiss-Prot | VAR_057994 | Disease | p.ARG272GLN | Endocrine-cerebroosteodysplasia (ECO) | Swiss-Prot | VAR_042004 | Polymorphism | p.ARG476GLN | N/A | Swiss-Prot | VAR_042001 | Polymorphism | p.PHE115TYR | N/A | Swiss-Prot | VAR_053931 | Polymorphism | p.PRO98LEU | N/A | Swiss-Prot | VAR_042003 | Polymorphism | p.THR471LYS | N/A | dbSNP | rs33936662 | Polymorphism | p.VAL320ILE | N/A | OMIM | 612325.0001 | Disease | p.ARG272GLN | ENDOCRINE-CEREBROOSTEODYSPLASIA |
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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