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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 | 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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| Swiss-Prot | VAR_022525 | Disease | p.ARG329GLN | Kanzaki disease (KANZD) | | Swiss-Prot | VAR_000498 | Disease | p.ARG329TRP | Kanzaki disease (KANZD) | | Swiss-Prot | VAR_000497 | Disease | p.GLU325LYS | Schindler disease (SCHIND) | | Swiss-Prot | VAR_000496 | Disease | p.SER160CYS | Schindler disease (SCHIND) | | OMIM | 104170.0005 | Disease | p.ARG329GLN | KANZAKI DISEASE | | OMIM | 104170.0002 | Disease | p.ARG329TRP | KANZAKI DISEASE | | OMIM | 104170.0001 | Disease | p.GLU325LYS | SCHINDLER DISEASE, TYPE I | | OMIM | 104170.0003 | Disease | p.GLU193TER | KANZAKI DISEASE | | OMIM | 104170.0004 | Disease | p.SER160CYS | SCHINDLER DISEASE, TYPE III |
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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127801
NAGAB_HUMAN RecName: Full=Alpha-N-acetylgalactosaminidase; AltName: Full=Alpha-galactosidase B; Flags: Precursor
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