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Known Diseases associated with this Protein: |  HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL 5
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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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| Sec1 | pfam00995 | 7.4e-195 | 28 | 577 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs6791 | Polymorphism | p.ILE523VAL | N/A | | OMIM | 601717.0007 | Disease | p.GLY527SER | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL 5 | | OMIM | 601717.0004 | Disease | p.LEU195PRO | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL 5 | | OMIM | 601717.0001 | Disease | p.PRO463LEU | HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL 5 |
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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188528901
syntaxin-binding protein 2 isoform b [Homo sapiens]
3
1
3
1
0
