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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_070115 | Disease | p.ARG501PRO | Spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant (SMALED2) | | Swiss-Prot | VAR_070113 | Disease | p.ASN188THR | Spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant (SMALED2) | | Swiss-Prot | VAR_070118 | Disease | p.GLU774GLY | Spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant (SMALED2) | | Swiss-Prot | VAR_070114 | Disease | p.ILE189PHE | Spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant (SMALED2) | | Swiss-Prot | VAR_070111 | Polymorphism | p.LYS90ARG | N/A | | Swiss-Prot | VAR_070116 | Disease | p.LYS508THR | Spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant (SMALED2) | | Swiss-Prot | VAR_070112 | Disease | p.SER107LEU | Spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant (SMALED2) | | Swiss-Prot | VAR_070117 | Disease | p.THR703MET | Spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant (SMALED2) | | OMIM | 609797.0005 | Disease | p.ARG501PRO | SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AUTOSOMAL||DOMINANT | | OMIM | 609797.0003 | Disease | p.ASN188THR | SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AUTOSOMAL||DOMINANT | | OMIM | 609797.0004 | Disease | p.GLU774GLY | SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AUTOSOMAL||DOMINANT | | OMIM | 609797.0006 | Disease | p.LYS508THR | SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AUTOSOMAL||DOMINANT | | OMIM | 609797.0001 | Disease | p.SER107LEU | SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AUTOSOMAL||DOMINANT | | OMIM | 609797.0002 | Disease | p.THR703MET | SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AUTOSOMAL||DOMINANT |
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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34098604
BICD2_HUMAN RecName: Full=Protein bicaudal D homolog 2; Short=Bic-D 2
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