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Known Diseases associated with this Protein: |  FRANK-TER HAAR SYNDROME
| FRANK-TER HAAR SYNDROME (FTHS)
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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 Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_063764 | Disease | p.ARG43TRP | Frank-Ter Haar syndrome (FTHS) | | dbSNP | rs77955907 | Polymorphism | p.PRO295GLN | N/A | | dbSNP | rs111230322 | Polymorphism | p.PRO571LEU | N/A | | Swiss-Prot | VAR_046226 | Polymorphism | p.TYR101PHE | N/A | | OMIM | 613293.0003 | Disease | p.ARG43TRP | FRANK-TER HAAR SYNDROME |
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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229463023
SPD2B_HUMAN RecName: Full=SH3 and PX domain-containing protein 2B; AltName: Full=Adapter protein HOFI; AltName: Full=Factor for adipocyte differentiation 49; AltName: Full=Tyrosine kinase substrate with four SH3 domains
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