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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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| HOX | smart00389 | 5.5e-22 | 277 | 332 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_031651 | Disease | p.ARG306TRP | Synpolydactyly 1 (SPD1) | | Swiss-Prot | VAR_031652 | Disease | p.GLN325ARG | Syndactyly 5 (SDTY5) | | Swiss-Prot | VAR_015953 | Disease | p.ILE322LEU | Brachydactyly E1 (BDE1) | | Swiss-Prot | VAR_031650 | Polymorphism | p.SER252ALA | N/A | | Swiss-Prot | VAR_015952 | Disease | p.SER316CYS | Brachydactyly E1 (BDE1) | | OMIM | 142989.0007 | Disease | p.ARG298TRP | SYNPOLYDACTYLY 1 | | OMIM | 142989.0009 | Disease | p.GLN317ARG | SYNDACTYLY, TYPE V | | OMIM | 142989.0011 | Disease | p.GLY220VAL | SYNPOLYDACTYLY 1 | | OMIM | 142989.0004 | Disease | p.ILE314LEU | BRACHYDACTYLY, TYPE E||BRACHYDACTYLY, TYPE D, INCLUDED | | OMIM | 142989.0005 | Disease | p.SER308CYS | BRACHYDACTYLY, TYPE E||BRACHYDACTYLY, TYPE D, 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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223590221
HXD13_HUMAN RecName: Full=Homeobox protein Hox-D13; AltName: Full=Homeobox protein Hox-4I
9
1
5
0
5
