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Known Diseases associated with this Protein: |  IMMUNODEFICIENCY POLYENDOCRINOPATHY, ENTEROPATHY, X-LINKED SYNDROME (IPEX)
| IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED
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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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| FH | smart00339 | 6e-36 | 337 | 420 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_011332 | Disease | p.ALA384THR | Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) | | Swiss-Prot | VAR_011333 | Disease | p.ARG397TRP | Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) | | Swiss-Prot | VAR_023569 | Disease | p.ILE363VAL | Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) | | Swiss-Prot | VAR_011331 | Disease | p.PHE371CYS | Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) | | OMIM | 300292.0004 | Disease | p.ALA384THR | IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED | | OMIM | 300292.0001 | Disease | p.ARG397TRP | IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED | | OMIM | 300292.0009 | Disease | p.PHE373ALA | IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED | | OMIM | 300292.0003 | Disease | p.PHE371CYS | IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED | | OMIM | 300292.0010 | Disease | p.PHE324LYS | IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED | | OMIM | 300292.0013 | Disease | p.PRO367LEU | IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED |
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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14548061
FOXP3_HUMAN RecName: Full=Forkhead box protein P3; AltName: Full=Scurfin
10
0
6
0
4
