Known Diseases associated with this Protein: |  VARIANT OF UNKNOWN SIGNIFICANCE
|
|  | 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. |
|---|
 Default View:
| |
|---|
Domains found on the Protein | Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
|---|
| EGF_2 | pfam07974 | 0.00012 | 329 | 357 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
|---|
| Swiss-Prot | VAR_020609 | Polymorphism | p.THR465ILE | N/A | | OMIM | 607985.0002 | Disease | p.ARG328CYS | VARIANT OF UNKNOWN SIGNIFICANCE | | OMIM | 607985.0001 | Disease | p.HIS84GLN | VARIANT OF UNKNOWN SIGNIFICANCE |
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 |
|
296439239
NAGPA_HUMAN RecName: Full=N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase; AltName: Full=Mannose 6-phosphate-uncovering enzyme; AltName: Full=Phosphodiester alpha-GlcNAcase; Flags: Precursor
2
1
2
0
1
