Known Diseases associated with this Protein: |  CATARACT 13 WITH ADULT I PHENOTYPE
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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 | rs539351 | Polymorphism | p.ASP272GLU | N/A | | dbSNP | rs594495 | Polymorphism | p.HIS236ARG | N/A | | OMIM | 600429.0002 | Disease | p.ARG383HIS | CATARACT 13 WITH ADULT i PHENOTYPE | | OMIM | 600429.0001 | Disease | p.GLY348GLU | CATARACT 13 WITH ADULT i PHENOTYPE |
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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298351849
GNT2C_HUMAN RecName: Full=N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase, isoform C; Short=N-acetylglucosaminyltransferase; AltName: Full=I-branching enzyme; AltName: Full=IGNT
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