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Known Diseases associated with this Protein: |  MENTAL RETARDATION, X-LINKED 21
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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_062264 | Polymorphism | p.GLN618HIS | N/A | | Swiss-Prot | VAR_062266 | Polymorphism | p.ILE643VAL | N/A | | Swiss-Prot | VAR_062263 | Polymorphism | p.LYS379ARG | N/A | | Swiss-Prot | VAR_062265 | Polymorphism | p.THR637SER | N/A | | OMIM | 300206.0002 | Disease | p.TRP487TER | MENTAL RETARDATION, X-LINKED 21 | | OMIM | 300206.0001 | Disease | p.TYR459TER | MENTAL RETARDATION, X-LINKED 21 |
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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34222654
IRPL1_HUMAN RecName: Full=Interleukin-1 receptor accessory protein-like 1; Short=IL-1-RAPL-1; Short=IL-1RAPL-1; Short=IL1RAPL-1; AltName: Full=Oligophrenin-4; AltName: Full=Three immunoglobulin domain-containing IL-1 receptor-related 2; Short=TIGIRR-2; AltName: Full=X-linked interleukin-1 receptor accessory protein-like 1; Flags: Precursor
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