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Known Diseases associated with this Protein: | OBESITY HYPERPHAGIA AND DEVELOPMENTAL DELAY (OHPDD)
| OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY
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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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Swiss-Prot | VAR_046520 | Polymorphism | p.ARG718CYS | N/A | Swiss-Prot | VAR_046519 | Polymorphism | p.ARG699GLY | N/A | Swiss-Prot | VAR_011973 | Polymorphism | p.ASN338TYR | N/A | Swiss-Prot | VAR_016320 | Polymorphism | p.GLY309ARG | N/A | Swiss-Prot | VAR_049715 | Polymorphism | p.GLY545VAL | N/A | Swiss-Prot | VAR_041470 | Polymorphism | p.LEU138PHE | N/A | Swiss-Prot | VAR_046518 | Polymorphism | p.MET697ILE | N/A | Swiss-Prot | VAR_065890 | Disease | p.TYR706CYS | Obesity hyperphagia and developmental delay (OHPDD) | OMIM | 600456.0001 | Disease | p.TYR706CYS | OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY |
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.
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