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Known Diseases associated with this Protein: | HETEROTAXY, VISCERAL, 5, AUTOSOMAL
| HETEROTAXY, VISCERAL, 5, AUTOSOMAL (HTX5)
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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 Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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TGFB | smart00204 | 5.9e-59 | 247 | 347 |
Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_062282 | Disease | p.ARG275CYS | Heterotaxy, visceral, 5, autosomal (HTX5) | Swiss-Prot | VAR_015111 | Disease | p.ARG183GLN | Heterotaxy, visceral, 5, autosomal (HTX5) | Swiss-Prot | VAR_038194 | Disease | p.GLU203LYS | Heterotaxy, visceral, 5, autosomal (HTX5) | Swiss-Prot | VAR_036202 | Polymorphism | p.GLU279LYS | N/A | Swiss-Prot | VAR_062281 | Disease | p.GLY260ARG | Heterotaxy, visceral, 5, autosomal (HTX5) | dbSNP | rs1904589 | Polymorphism | p.HIS165ARG | N/A | Swiss-Prot | VAR_062283 | Disease | p.VAL284PHE | Heterotaxy, visceral, 5, autosomal (HTX5) | OMIM | 601265.0001 | Disease | p.ARG183GLN | HETEROTAXY, VISCERAL, 5, AUTOSOMAL | OMIM | 601265.0002 | Disease | p.GLY260ARG | HETEROTAXY, VISCERAL, 5, AUTOSOMAL |
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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