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Known Diseases associated with this Protein: | JOHANSON-BLIZZARD SYNDROME
| JOHANSON-BLIZZARD SYNDROME (JBS)
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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_024742 | Disease | p.GLY1279SER | Johanson-Blizzard syndrome (JBS) | Swiss-Prot | VAR_024741 | Disease | p.HIS136ARG | Johanson-Blizzard syndrome (JBS) | Swiss-Prot | VAR_052116 | Polymorphism | p.ILE899VAL | N/A | Swiss-Prot | VAR_034467 | Polymorphism | p.LYS596MET | N/A | Swiss-Prot | VAR_061822 | Polymorphism | p.THR1548ALA | N/A | dbSNP | rs3917223 | Polymorphism | p.THR1548SER | N/A | OMIM | 605981.0003 | Disease | p.GLN513TER | JOHANSON-BLIZZARD SYNDROME | OMIM | 605981.0001 | Disease | p.HIS136ARG | JOHANSON-BLIZZARD SYNDROME |
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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