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Known Diseases associated with this Protein: | LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1
| LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 (XLP1)
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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_018307 | Disease | p.ARG55LEU | Lymphoproliferative syndrome, X-linked, 1 (XLP1) | Swiss-Prot | VAR_005612 | Disease | p.ARG32THR | Lymphoproliferative syndrome, X-linked, 1 (XLP1) | Swiss-Prot | VAR_048011 | Disease | p.ASP33TYR | Lymphoproliferative syndrome, X-linked, 1 (XLP1) | Swiss-Prot | VAR_048012 | Disease | p.CYS42TRP | Lymphoproliferative syndrome, X-linked, 1 (XLP1) | Swiss-Prot | VAR_048019 | Disease | p.GLN99PRO | Lymphoproliferative syndrome, X-linked, 1 (XLP1) | Swiss-Prot | VAR_048007 | Disease | p.GLY16ASP | Lymphoproliferative syndrome, X-linked, 1 (XLP1) | Swiss-Prot | VAR_048008 | Disease | p.GLY27SER | Lymphoproliferative syndrome, X-linked, 1 (XLP1) | Swiss-Prot | VAR_048013 | Disease | p.GLY49VAL | Lymphoproliferative syndrome, X-linked, 1 (XLP1) | Swiss-Prot | VAR_048006 | Disease | p.HIS8ASP | Lymphoproliferative syndrome, X-linked, 1 (XLP1) | Swiss-Prot | VAR_048017 | Disease | p.ILE84THR | Lymphoproliferative syndrome, X-linked, 1 (XLP1) | Swiss-Prot | VAR_048010 | Disease | p.LEU31PRO | Lymphoproliferative syndrome, X-linked, 1 (XLP1) | Swiss-Prot | VAR_048018 | Disease | p.PHE87SER | Lymphoproliferative syndrome, X-linked, 1 (XLP1) | Swiss-Prot | VAR_005614 | Disease | p.PRO101LEU | Lymphoproliferative syndrome, X-linked, 1 (XLP1) | Swiss-Prot | VAR_048009 | Disease | p.SER28ARG | Lymphoproliferative syndrome, X-linked, 1 (XLP1) | Swiss-Prot | VAR_048016 | Polymorphism | p.SER57PRO | N/A | Swiss-Prot | VAR_048014 | Disease | p.THR53ILE | Lymphoproliferative syndrome, X-linked, 1 (XLP1) | Swiss-Prot | VAR_005613 | Disease | p.THR68ILE | Lymphoproliferative syndrome, X-linked, 1 (XLP1) | Swiss-Prot | VAR_048015 | Disease | p.TYR54CYS | Lymphoproliferative syndrome, X-linked, 1 (XLP1) | Swiss-Prot | VAR_048005 | Disease | p.TYR7CYS | Lymphoproliferative syndrome, X-linked, 1 (XLP1) | Swiss-Prot | VAR_048020 | Disease | p.VAL102GLY | Lymphoproliferative syndrome, X-linked, 1 (XLP1) | 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.TER129ARG | 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.
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