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Known Diseases associated with this Protein: | SPONDYLOEPIMETAPHYSEAL DYSPLASIA SHORT LIMB-HAND TYPE (SEMD-SL)
| SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
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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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Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_041500 | Polymorphism | p.ARG478CYS | N/A | Swiss-Prot | VAR_063052 | Disease | p.ARG752CYS | Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) | Swiss-Prot | VAR_041498 | Polymorphism | p.ARG105SER | N/A | Swiss-Prot | VAR_065719 | Disease | p.GLU113LYS | Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) | Swiss-Prot | VAR_063051 | Disease | p.ILE726ARG | Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) | Swiss-Prot | VAR_041499 | Polymorphism | p.MET441ILE | N/A | Swiss-Prot | VAR_063050 | Disease | p.THR713ILE | Spondyloepimetaphyseal dysplasia short limb-hand type (SEMD-SL) | Swiss-Prot | VAR_041501 | Polymorphism | p.VAL543PHE | N/A | OMIM | 191311.0001 | Disease | p.ARG752CYS | SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE | OMIM | 191311.0005 | Disease | p.GLU113LYS | SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE | OMIM | 191311.0002 | Disease | p.ILE726ARG | SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE | OMIM | 191311.0003 | Disease | p.THR713ILE | SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE |
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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