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Known Diseases associated with this Protein: |  EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1
| EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1 (EDSP1)
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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_010293 | Disease | p.ALA186ASP | Ehlers-Danlos syndrome, progeroid type, 1 (EDSP1) | | Swiss-Prot | VAR_010294 | Disease | p.LEU206PRO | Ehlers-Danlos syndrome, progeroid type, 1 (EDSP1) | | OMIM | 604327.0001 | Disease | p.ALA186ASP | EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1 | | OMIM | 604327.0003 | Disease | p.ARG270CYS | EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1 | | OMIM | 604327.0002 | Disease | p.LEU206PRO | EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1 |
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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13123990
B4GT7_HUMAN RecName: Full=Beta-1,4-galactosyltransferase 7; Short=Beta-1,4-GalTase 7; Short=Beta4Gal-T7; Short=b4Gal-T7; AltName: Full=UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 7; AltName: Full=UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 7; Includes: RecName: Full=Xylosylprotein 4-beta-galactosyltransferase; AltName: Full=Proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I; AltName: Full=UDP-galactose:beta-xylose beta-1,4-galactosyltransferase; AltName: Full=XGPT; AltName: Full=XGalT-1; AltName: Full=Xylosylprotein beta-1,4-galactosyltransferase
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