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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 | Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_036065 | Polymorphism | p.GLY337GLU | N/A | | dbSNP | rs41298838 | Disease | p.GLY310SER | DiGeorge syndrome (DGS) | | Swiss-Prot | VAR_035026 | Disease | p.HIS194GLN | Velocardiofacial syndrome (VCFS) | | Swiss-Prot | VAR_035025 | Disease | p.PHE148TYR | Velocardiofacial syndrome (VCFS) | | dbSNP | rs4819522 | Polymorphism | p.THR350MET | N/A | | OMIM | 602054.0002 | Disease | p.GLY310SER | DIGEORGE SYNDROME | | OMIM | 602054.0005 | Disease | p.HIS194GLN | VELOCARDIOFACIAL SYNDROME | | OMIM | 602054.0001 | Disease | p.PHE148TYR | CONOTRUNCAL ANOMALY FACE SYNDROME/VELOCARDIOFACIAL SYNDROME |
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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6175055
TBX1_HUMAN RecName: Full=T-box transcription factor TBX1; Short=T-box protein 1; AltName: Full=Testis-specific T-box protein
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