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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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Domains found on the Protein Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs2230392 | Polymorphism | p.ALA719THR | N/A | | Swiss-Prot | VAR_068808 | Disease | p.ARG628PRO | Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital (ILNEB) | | Swiss-Prot | VAR_055969 | Polymorphism | p.GLY840SER | N/A | | Swiss-Prot | VAR_055967 | Polymorphism | p.ILE268PHE | N/A | | dbSNP | rs61730092 | Polymorphism | p.LEU1013MET | N/A | | dbSNP | rs61730085 | Polymorphism | p.LEU371PHE | N/A | | OMIM | 605025.0003 | Disease | p.ARG628PRO | INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA,||CONGENITAL |
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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347595830
ITA3_HUMAN RecName: Full=Integrin alpha-3; AltName: Full=CD49 antigen-like family member C; AltName: Full=FRP-2; AltName: Full=Galactoprotein B3; Short=GAPB3; AltName: Full=VLA-3 subunit alpha; AltName: CD_antigen=CD49c; Contains: RecName: Full=Integrin alpha-3 heavy chain; Contains: RecName: Full=Integrin alpha-3 light chain; Flags: Precursor
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