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Known Diseases associated with this Protein: | HEREDITARY NEUTROPHILIA (NEUTROPHILIA)
| NEUTROPHILIA, HEREDITARY
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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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Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_014332 | Polymorphism | p.ARG583CYS | N/A | Swiss-Prot | VAR_014329 | Polymorphism | p.ARG440GLN | N/A | Swiss-Prot | VAR_014326 | Polymorphism | p.ASP320ASN | N/A | dbSNP | rs3917991 | Polymorphism | p.ASP510HIS | N/A | dbSNP | rs3917974 | Polymorphism | p.GLN346ARG | N/A | Swiss-Prot | VAR_014328 | Polymorphism | p.GLU405LYS | N/A | dbSNP | rs3917973 | Polymorphism | p.MET231THR | N/A | Swiss-Prot | VAR_062517 | Polymorphism | p.PRO229HIS | N/A | Swiss-Prot | VAR_063065 | Disease | p.THR640ASN | Hereditary neutrophilia (NEUTROPHILIA) | dbSNP | rs3917996 | Polymorphism | p.TYR562HIS | N/A | OMIM | 138971.0001 | Disease | p.THR617ASN | NEUTROPHILIA, HEREDITARY |
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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