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Known Diseases associated with this Protein: |  MENTAL RETARDATION, X-LINKED 58
| MENTAL RETARDATION, X-LINKED 58 (MRX58)
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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_037906 | Polymorphism | p.ALA127THR | N/A | | Swiss-Prot | VAR_037905 | Polymorphism | p.GLU53LYS | N/A | | Swiss-Prot | VAR_009259 | Disease | p.PRO172HIS | Mental retardation, X-linked 58 (MRX58) | | OMIM | 300096.0001 | Disease | p.GLY218TER | MENTAL RETARDATION, X-LINKED 58 | | OMIM | 300096.0002 | Disease | p.PRO172HIS | MENTAL RETARDATION, X-LINKED 58 |
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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17380550
TSN7_HUMAN RecName: Full=Tetraspanin-7; Short=Tspan-7; AltName: Full=Cell surface glycoprotein A15; AltName: Full=Membrane component chromosome X surface marker 1; AltName: Full=T-cell acute lymphoblastic leukemia-associated antigen 1; Short=TALLA-1; AltName: Full=Transmembrane 4 superfamily member 2; AltName: CD_antigen=CD231
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