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Known Diseases associated with this Protein: |  HOLT-ORAM SYNDROME
| HOLT-ORAM SYNDROME (HOS)
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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_007456 | Disease | p.ARG237GLN | Holt-Oram syndrome (HOS) | | Swiss-Prot | VAR_009702 | Disease | p.ARG237TRP | Holt-Oram syndrome (HOS) | | Swiss-Prot | VAR_015381 | Disease | p.GLN49LYS | Holt-Oram syndrome (HOS) | | Swiss-Prot | VAR_009701 | Disease | p.GLY80ARG | Holt-Oram syndrome (HOS) | | Swiss-Prot | VAR_015382 | Disease | p.ILE54THR | Holt-Oram syndrome (HOS) | | OMIM | 601620.0003 | Disease | p.ARG237GLN | HOLT-ORAM SYNDROME | | OMIM | 601620.0005 | Disease | p.ARG237TRP | HOLT-ORAM SYNDROME | | OMIM | 601620.0007 | Disease | p.GLN49LYS | HOLT-ORAM SYNDROME | | OMIM | 601620.0002 | Disease | p.GLU69TER | HOLT-ORAM SYNDROME | | OMIM | 601620.0004 | Disease | p.GLY80ARG | HOLT-ORAM SYNDROME | | OMIM | 601620.0008 | Disease | p.ILE54THR | HOLT-ORAM SYNDROME | | OMIM | 601620.0009 | Disease | p.TYR136TER | HOLT-ORAM 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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12644474
TBX5_HUMAN RecName: Full=T-box transcription factor TBX5; Short=T-box protein 5
12
0
7
0
5
