|  | 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_013159 | Polymorphism | p.GLY1265GLU | N/A | | dbSNP | rs13336129 | Polymorphism | p.SER159GLY | N/A | | OMIM | 602218.0003 | Disease | p.ARG276TER | TOWNES-BROCKS SYNDROME | | OMIM | 602218.0009 | Disease | p.GLN323TER | TOWNES-BROCKS-BRANCHIOOTORENAL-LIKE SYNDROME | | OMIM | 602218.0010 | Disease | p.LEU419TER | TOWNES-BROCKS SYNDROME||HEMIFACIAL MICROSOMIA, INCLUDED |
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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296452895
SALL1_HUMAN RecName: Full=Sal-like protein 1; AltName: Full=Spalt-like transcription factor 1; AltName: Full=Zinc finger protein 794; AltName: Full=Zinc finger protein SALL1; AltName: Full=Zinc finger protein Spalt-1; Short=HSal1; Short=Sal-1
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