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Known Diseases associated with this Protein: | FARBER LIPOGRANULOMATOSIS
| SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY
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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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dbSNP | rs2472205 | Polymorphism | p.ASP118GLU | N/A | dbSNP | rs13263632 | Polymorphism | p.SER36ASN | N/A | dbSNP | rs10103355 | Polymorphism | p.VAL240ALA | N/A | dbSNP | rs3753115 | Polymorphism | p.VAL63ILE | N/A | dbSNP | rs1071645 | Polymorphism | p.VAL95MET | N/A | OMIM | 613468.0004 | Disease | p.ASN298ASP | FARBER LIPOGRANULOMATOSIS | OMIM | 613468.0002 | Disease | p.GLU116VAL | FARBER LIPOGRANULOMATOSIS | OMIM | 613468.0005 | Disease | p.LEU160VAL | FARBER LIPOGRANULOMATOSIS | OMIM | 613468.0001 | Disease | p.THR200LYS | FARBER LIPOGRANULOMATOSIS | OMIM | 613468.0006 | Disease | p.THR42MET | SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY | OMIM | 613468.0003 | Disease | p.TYR36CYS | FARBER LIPOGRANULOMATOSIS |
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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