Known Diseases associated with this Protein: |  AMISH INFANTILE EPILEPSY SYNDROME
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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 | 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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| dbSNP | rs1138484 | Polymorphism | p.HIS104ARG | N/A | | OMIM | 604402.0001 | Disease | p.ARG288TER | AMISH INFANTILE EPILEPSY 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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189047140
SIAT9_HUMAN RecName: Full=Lactosylceramide alpha-2,3-sialyltransferase; AltName: Full=CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; AltName: Full=Ganglioside GM3 synthase; AltName: Full=ST3Gal V; Short=ST3GalV; AltName: Full=Sialyltransferase 9
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