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Known Diseases associated with this Protein: |  LOEYS-DIETZ SYNDROME 4 (LDS4)
| LOEYS-DIETZ SYNDROME, TYPE 4
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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_068933 | Disease | p.ARG302CYS | Loeys-Dietz syndrome 4 (LDS4) | | Swiss-Prot | VAR_012708 | Polymorphism | p.ARG91HIS | N/A | | Swiss-Prot | VAR_068932 | Disease | p.ARG299TRP | Loeys-Dietz syndrome 4 (LDS4) | | Swiss-Prot | VAR_068934 | Disease | p.PRO338HIS | Loeys-Dietz syndrome 4 (LDS4) | | Swiss-Prot | VAR_018923 | Polymorphism | p.VAL207LEU | N/A | | OMIM | 190220.0004 | Disease | p.CYS201TER | LOEYS-DIETZ SYNDROME, TYPE 4 | | OMIM | 190220.0001 | Disease | p.PRO338HIS | LOEYS-DIETZ SYNDROME, TYPE 4 |
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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48429157
TGFB2_HUMAN RecName: Full=Transforming growth factor beta-2; Short=TGF-beta-2; AltName: Full=BSC-1 cell growth inhibitor; AltName: Full=Cetermin; AltName: Full=Glioblastoma-derived T-cell suppressor factor; Short=G-TSF; AltName: Full=Polyergin; Contains: RecName: Full=Latency-associated peptide; Short=LAP; Flags: Precursor
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