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Known Diseases associated with this Protein: |  LYMPHEDEMA-DISTICHIASIS (LYD)
| LYMPHEDEMA-DISTICHIASIS SYNDROME
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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_018418 | Disease | p.SER125LEU | Lymphedema-distichiasis (LYD) | | Swiss-Prot | VAR_060950 | Polymorphism | p.SER191PHE | N/A | | OMIM | 602402.0013 | Disease | p.ARG121HIS | LYMPHEDEMA-DISTICHIASIS SYNDROME | | OMIM | 602402.0012 | Disease | p.SER125LEU | LYMPHEDEMA-DISTICHIASIS SYNDROME | | OMIM | 602402.0001 | Disease | p.TYR99TER | LYMPHEDEMA-DISTICHIASIS 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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3024149
FOXC2_HUMAN RecName: Full=Forkhead box protein C2; AltName: Full=Forkhead-related protein FKHL14; AltName: Full=Mesenchyme fork head protein 1; Short=MFH-1 protein; AltName: Full=Transcription factor FKH-14
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