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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_066594 | Disease | p.ALA13ASP | Mental retardation, autosomal recessive 12 (MRT12) | | Swiss-Prot | VAR_069319 | Disease | p.ALA320PRO | Epileptic encephalopathy, early infantile, 15 (EIEE15) | | Swiss-Prot | VAR_066595 | Disease | p.ASP370TYR | Mental retardation, autosomal recessive 12 (MRT12) | | OMIM | 606494.0001 | Disease | p.ALA13ASP | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 | | OMIM | 606494.0003 | Disease | p.ALA251PRO | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15 | | OMIM | 606494.0002 | Disease | p.ASP301TYR | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 |
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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1705561
SIAT6_HUMAN RecName: Full=CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase; AltName: Full=Beta-galactoside alpha-2,3-sialyltransferase 3; Short=Alpha 2,3-ST 3; AltName: Full=Gal beta-1,3(4) GlcNAc alpha-2,3 sialyltransferase; AltName: Full=N-acetyllactosaminide alpha-2,3-sialyltransferase; AltName: Full=ST3Gal III; Short=ST3GalIII; AltName: Full=ST3N; AltName: Full=Sialyltransferase 6
6
0
3
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3
