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Known Diseases associated with this Protein: |  TRICHO-RHINO-PHALANGEAL SYNDROME 1 (TRPS1)
| TRICHO-RHINO-PHALANGEAL SYNDROME 3 (TRPS3)
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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_012811 | Disease | p.ALA919THR | Tricho-rhino-phalangeal syndrome 3 (TRPS3) | | Swiss-Prot | VAR_038198 | Disease | p.ARG952CYS | Tricho-rhino-phalangeal syndrome 1 (TRPS1) | | Swiss-Prot | VAR_012810 | Disease | p.ARG908GLN | Tricho-rhino-phalangeal syndrome 3 (TRPS3) | | Swiss-Prot | VAR_038199 | Disease | p.ARG952HIS | Tricho-rhino-phalangeal syndrome 1 (TRPS1) | | Swiss-Prot | VAR_012809 | Disease | p.ARG908PRO | Tricho-rhino-phalangeal syndrome 3 (TRPS3) | | Swiss-Prot | VAR_038197 | Polymorphism | p.SER654LEU | N/A | | Swiss-Prot | VAR_012808 | Disease | p.THR901PRO | Tricho-rhino-phalangeal syndrome 3 (TRPS3) | | Swiss-Prot | VAR_012807 | Disease | p.VAL894ASP | Tricho-rhino-phalangeal syndrome 3 (TRPS3) |
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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20140909
TRPS1_HUMAN RecName: Full=Zinc finger transcription factor Trps1; AltName: Full=Tricho-rhino-phalangeal syndrome type I protein; AltName: Full=Zinc finger protein GC79
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