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Known Diseases associated with this Protein: | HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE
| HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE (AR-HIES)
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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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dbSNP | rs34908836 | Polymorphism | p.ALA1970PRO | N/A | dbSNP | rs35482838 | Polymorphism | p.ALA318THR | N/A | dbSNP | rs506121 | Polymorphism | p.ALA22VAL | N/A | dbSNP | rs17673268 | Polymorphism | p.ALA597VAL | N/A | Swiss-Prot | VAR_033892 | Polymorphism | p.ARG1008TRP | N/A | dbSNP | rs73382631 | Polymorphism | p.ASN1070ASP | N/A | dbSNP | rs10970979 | Polymorphism | p.ASN413SER | N/A | dbSNP | rs3209441 | Polymorphism | p.ASP63ASN | N/A | Swiss-Prot | VAR_059972 | Polymorphism | p.GLU169LYS | N/A | dbSNP | rs11789099 | Polymorphism | p.GLU237LYS | N/A | dbSNP | rs77399114 | Polymorphism | p.ILE1189VAL | N/A | Swiss-Prot | VAR_063753 | Disease | p.LYS473ARG | Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive (AR-HIES) | dbSNP | rs529208 | Polymorphism | p.PRO97THR | N/A | dbSNP | rs34627722 | Polymorphism | p.SER1077ASN | N/A | OMIM | 611432.0001 | Disease | p.LYS405ARG | HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE |
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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