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Known Diseases associated with this Protein: |  LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1
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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 Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| OMIM | 300490.0013 | Disease | p.ARG55LEU | LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 | | OMIM | 300490.0001 | Disease | p.ARG55TER | LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 | | OMIM | 300490.0004 | Disease | p.ARG32THR | LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 | | OMIM | 300490.0002 | Disease | p.GLN58TER | LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 | | OMIM | 300490.0011 | Disease | p.MET1ILE | LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 | | OMIM | 300490.0007 | Disease | p.PRO101LEU | LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 | | OMIM | 300490.0006 | Disease | p.TER126ARG | LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 | | OMIM | 300490.0008 | Disease | p.THR68ILE | LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 |
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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169234945
SH2 domain-containing protein 1A isoform 2 [Homo sapiens]
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