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Known Diseases associated with this Protein: |  HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT
| HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT (AD-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 Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_037366 | Disease | p.ARG382GLN | Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant (AD-HIES) | | Swiss-Prot | VAR_037371 | Disease | p.ARG423GLN | Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant (AD-HIES) | | Swiss-Prot | VAR_037365 | Disease | p.ARG382LEU | Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant (AD-HIES) | | Swiss-Prot | VAR_037367 | Disease | p.ARG382TRP | Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant (AD-HIES) | | Swiss-Prot | VAR_018683 | Polymorphism | p.GLN32LYS | N/A | | Swiss-Prot | VAR_037372 | Disease | p.HIS437TYR | Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant (AD-HIES) | | Swiss-Prot | VAR_018679 | Polymorphism | p.MET143ILE | N/A | | Swiss-Prot | VAR_037368 | Disease | p.PHE384LEU | Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant (AD-HIES) | | Swiss-Prot | VAR_037369 | Disease | p.PHE384SER | Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant (AD-HIES) | | Swiss-Prot | VAR_037374 | Polymorphism | p.PHE561TYR | N/A | | Swiss-Prot | VAR_037376 | Disease | p.PHE621VAL | Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant (AD-HIES) | | Swiss-Prot | VAR_037375 | Disease | p.SER611ASN | Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant (AD-HIES) | | Swiss-Prot | VAR_037370 | Disease | p.THR389ILE | Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant (AD-HIES) | | Swiss-Prot | VAR_037377 | Disease | p.THR622ILE | Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant (AD-HIES) | | Swiss-Prot | VAR_037381 | Disease | p.TYR657CYS | Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant (AD-HIES) | | Swiss-Prot | VAR_037378 | Disease | p.VAL637LEU | Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant (AD-HIES) | | Swiss-Prot | VAR_037379 | Disease | p.VAL637MET | Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant (AD-HIES) | | OMIM | 102582.0003 | Disease | p.ARG382GLN | HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT | | OMIM | 102582.0004 | Disease | p.ARG423GLN | HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT | | OMIM | 102582.0005 | Disease | p.ARG383LEU | HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT | | OMIM | 102582.0002 | Disease | p.ARG382TRP | HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT | | OMIM | 102582.0007 | Disease | p.THR389ILE | HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT | | OMIM | 102582.0006 | Disease | p.VAL637MET | HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT |
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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STAT3_HUMAN RecName: Full=Signal transducer and activator of transcription 3; AltName: Full=Acute-phase response factor
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