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Known Diseases associated with this Protein: |  FAMILIAL HIBERNIAN FEVER (FHF)
| PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT
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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_019332 | Disease | p.ARG121GLN | Familial hibernian fever (FHF) | | Swiss-Prot | VAR_019305 | Disease | p.ARG121PRO | Familial hibernian fever (FHF) | | Swiss-Prot | VAR_013414 | Disease | p.CYS117ARG | Familial hibernian fever (FHF) | | Swiss-Prot | VAR_013410 | Disease | p.CYS59ARG | Familial hibernian fever (FHF) | | Swiss-Prot | VAR_019303 | Disease | p.CYS62GLY | Familial hibernian fever (FHF) | | Swiss-Prot | VAR_013413 | Disease | p.CYS81PHE | Familial hibernian fever (FHF) | | Swiss-Prot | VAR_019302 | Disease | p.CYS59SER | Familial hibernian fever (FHF) | | Swiss-Prot | VAR_019304 | Disease | p.CYS99SER | Familial hibernian fever (FHF) | | Swiss-Prot | VAR_013415 | Disease | p.CYS117TYR | Familial hibernian fever (FHF) | | Swiss-Prot | VAR_013411 | Disease | p.CYS62TYR | Familial hibernian fever (FHF) | | Swiss-Prot | VAR_019329 | Disease | p.HIS51GLN | Familial hibernian fever (FHF) | | dbSNP | rs4149637 | Polymorphism | p.PRO75LEU | N/A | | Swiss-Prot | VAR_019330 | Disease | p.PRO75LEU | Familial hibernian fever (FHF) | | Swiss-Prot | VAR_011813 | Polymorphism | p.PRO305THR | N/A | | Swiss-Prot | VAR_019331 | Disease | p.SER115GLY | Familial hibernian fever (FHF) | | Swiss-Prot | VAR_013412 | Disease | p.THR79MET | Familial hibernian fever (FHF) | | OMIM | 191190.0007 | Disease | p.ARG92PRO | PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT | | OMIM | 191190.0012 | Disease | p.CYS55ALA | PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT | | OMIM | 191190.0003 | Disease | p.CYS30ARG | PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT | | OMIM | 191190.0005 | Disease | p.CYS88ARG | PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT | | OMIM | 191190.0009 | Disease | p.CYS33GLY | PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT | | OMIM | 191190.0004 | Disease | p.CYS52PHE | PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT | | OMIM | 191190.0008 | Disease | p.CYS30SER | PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT | | OMIM | 191190.0011 | Disease | p.CYS70SER | PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT | | OMIM | 191190.0001 | Disease | p.CYS33TYR | PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT | | OMIM | 191190.0006 | Disease | p.CYS88TYR | PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT | | OMIM | 191190.0002 | Disease | p.THR50MET | PERIODIC FEVER, FAMILIAL, 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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135959
TNR1A_HUMAN RecName: Full=Tumor necrosis factor receptor superfamily member 1A; AltName: Full=Tumor necrosis factor receptor 1; Short=TNF-R1; AltName: Full=Tumor necrosis factor receptor type I; Short=TNF-RI; Short=TNFR-I; AltName: Full=p55; AltName: Full=p60; AltName: CD_antigen=CD120a; Contains: RecName: Full=Tumor necrosis factor receptor superfamily member 1A, membrane form; Contains: RecName: Full=Tumor necrosis factor-binding protein 1; Short=TBPI; Flags: Precursor
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