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Known Diseases associated with this Protein: |  HOLOPROSENCEPHALY 4 (HPE4)
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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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| Swiss-Prot | VAR_023803 | Disease | p.GLN236LEU | Holoprosencephaly 4 (HPE4) | | Swiss-Prot | VAR_009962 | Disease | p.PRO192ARG | Holoprosencephaly 4 (HPE4) | | dbSNP | rs2229333 | Polymorphism | p.PRO292ARG | N/A | | Swiss-Prot | VAR_020151 | Polymorphism | p.PRO292LEU | N/A | | Swiss-Prot | VAR_047363 | Polymorphism | p.PRO289SER | N/A | | dbSNP | rs4468717 | Polymorphism | p.PRO292SER | N/A | | Swiss-Prot | VAR_009961 | Disease | p.SER157CYS | Holoprosencephaly 4 (HPE4) | | Swiss-Prot | VAR_009964 | Disease | p.SER291PHE | Holoprosencephaly 4 (HPE4) | | Swiss-Prot | VAR_009963 | Disease | p.THR280ALA | Holoprosencephaly 4 (HPE4) |
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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215274200
TGIF1_HUMAN RecName: Full=Homeobox protein TGIF1; AltName: Full=5'-TG-3'-interacting factor 1
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