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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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Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_012346 | Disease | p.ARG173CYS | Leri-Weill dyschondrosteosis (LWD) | | Swiss-Prot | VAR_019415 | Disease | p.ARG153LEU | Leri-Weill dyschondrosteosis (LWD) | | Swiss-Prot | VAR_019416 | Disease | p.ARG168TRP | Langer mesomelic dysplasia (LMD) | | Swiss-Prot | VAR_019414 | Disease | p.LEU132VAL | Leri-Weill dyschondrosteosis (LWD) | | OMIM | 312865.0015 | Disease | p.ALA170ASP | LERI-WEILL DYSCHONDROSTEOSIS | | OMIM | 312865.0014 | Disease | p.ALA170PRO | LERI-WEILL DYSCHONDROSTEOSIS||LANGER MESOMELIC DYSPLASIA, INCLUDED | | OMIM | 312865.0007 | Disease | p.ARG173CYS | LERI-WEILL DYSCHONDROSTEOSIS | | OMIM | 312865.0005 | Disease | p.ARG153LEU | LERI-WEILL DYSCHONDROSTEOSIS | | OMIM | 312865.0001 | Disease | p.ARG195TER | SHORT STATURE, IDIOPATHIC, X-LINKED | | OMIM | 312865.0008 | Disease | p.ARG168TRP | LANGER MESOMELIC DYSPLASIA||LERI-WEILL DYSCHONDROSTEOSIS, INCLUDED | | OMIM | 312865.0011 | Disease | p.GLU102TER | LERI-WEILL DYSCHONDROSTEOSIS | | OMIM | 312865.0004 | Disease | p.LEU132VAL | LERI-WEILL DYSCHONDROSTEOSIS | | OMIM | 312865.0012 | Disease | p.TER293ARG | LERI-WEILL DYSCHONDROSTEOSIS | | OMIM | 312865.0002 | Disease | p.TYR199TER | LERI-WEILL DYSCHONDROSTEOSIS |
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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6831676
SHOX_HUMAN RecName: Full=Short stature homeobox protein; AltName: Full=Pseudoautosomal homeobox-containing osteogenic protein; AltName: Full=Short stature homeobox-containing protein
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