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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 Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_046900 | Disease | p.ARG141GLN | Congenital central hypoventilation syndrome (CCHS) | | Swiss-Prot | VAR_026970 | Polymorphism | p.ARG141GLY | N/A | | Swiss-Prot | VAR_026969 | Polymorphism | p.ARG100LEU | N/A | | Swiss-Prot | VAR_046901 | Disease | p.GLN143ARG | Congenital central hypoventilation syndrome (CCHS) | | Swiss-Prot | VAR_046902 | Polymorphism | p.GLY197ASP | N/A | | OMIM | 603851.0006 | Disease | p.ARG141GLY | NEUROBLASTOMA WITH HIRSCHSPRUNG DISEASE | | OMIM | 603851.0005 | Disease | p.ARG100LEU | NEUROBLASTOMA, SUSCEPTIBILITY TO, 2 | | OMIM | 603851.0008 | Disease | p.GLY197ASP | NEUROBLASTOMA, SUSCEPTIBILITY TO, 2 |
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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116242712
PHX2B_HUMAN RecName: Full=Paired mesoderm homeobox protein 2B; AltName: Full=Neuroblastoma Phox; Short=NBPhox; AltName: Full=PHOX2B homeodomain protein; AltName: Full=Paired-like homeobox 2B
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