Known Diseases associated with this Protein: |  CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IV (1 FAMILY)
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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_027386 | Polymorphism | p.GLN591ARG | N/A | | Swiss-Prot | VAR_027385 | Polymorphism | p.VAL581ILE | N/A | | OMIM | 610661.0002 | Disease | p.ARG401TER | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iv (1 family) |
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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74732105
NGLY1_HUMAN RecName: Full=Peptide-N(4)-(N-acetyl-beta-glucosaminyl)asparagine amidase; Short=PNGase; Short=hPNGase; AltName: Full=N-glycanase 1; AltName: Full=Peptide:N-glycanase
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