Known Diseases associated with this Protein: |  CONGENITAL DISORDER OF GLYCOSYLATION 2M (CDG2M)
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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_036579 | Polymorphism | p.TRP252CYS | N/A | | Swiss-Prot | VAR_069773 | Disease | p.VAL331ILE | Congenital disorder of glycosylation 2M (CDG2M) |
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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2499228
S35A2_HUMAN RecName: Full=UDP-galactose translocator; AltName: Full=Solute carrier family 35 member A2; AltName: Full=UDP-galactose transporter; Short=UDP-Gal-Tr; Short=UGT
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