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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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| CT | smart00041 | 0.00043 | 82 | 172 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_063982 | Disease | p.CYS167ARG | Sclerosteosis 1 (SOST1) | | Swiss-Prot | VAR_065766 | Disease | p.VAL21LEU | Craniodiaphyseal dysplasia autosomal dominant (CDD) | | Swiss-Prot | VAR_065767 | Disease | p.VAL21MET | Craniodiaphyseal dysplasia autosomal dominant (CDD) | | OMIM | 605740.0004 | Disease | p.ARG126TER | SCLEROSTEOSIS | | OMIM | 605740.0001 | Disease | p.GLN24TER | SCLEROSTEOSIS | | OMIM | 605740.0003 | Disease | p.TRP124TER | SCLEROSTEOSIS | | OMIM | 605740.0006 | Disease | p.VAL21LEU | CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | | OMIM | 605740.0005 | Disease | p.VAL21MET | CRANIODIAPHYSEAL DYSPLASIA, 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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SOST_HUMAN RecName: Full=Sclerostin; Flags: Precursor
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