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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_066238 | Disease | p.ARG375CYS | Anemia, sideroblastic, X-linked (XLSA) | Swiss-Prot | VAR_000563 | Disease | p.ARG411CYS | Anemia, sideroblastic, X-linked (XLSA) | Swiss-Prot | VAR_012337 | Disease | p.ARG452CYS | Anemia, sideroblastic, X-linked (XLSA) | Swiss-Prot | VAR_012335 | Disease | p.ARG204GLN | Anemia, sideroblastic, X-linked (XLSA) | Swiss-Prot | VAR_012336 | Disease | p.ARG448GLN | Anemia, sideroblastic, X-linked (XLSA) | Swiss-Prot | VAR_066240 | Disease | p.ARG452GLY | Anemia, sideroblastic, X-linked (XLSA) | Swiss-Prot | VAR_066233 | Disease | p.ARG170HIS | Anemia, sideroblastic, X-linked (XLSA) | Swiss-Prot | VAR_066234 | Disease | p.ARG218HIS | Anemia, sideroblastic, X-linked (XLSA) | Swiss-Prot | VAR_066239 | Disease | p.ARG411HIS | Anemia, sideroblastic, X-linked (XLSA) | Swiss-Prot | VAR_066241 | Disease | p.ARG452HIS | Anemia, sideroblastic, X-linked (XLSA) | Swiss-Prot | VAR_018605 | Disease | p.ARG560HIS | Anemia, sideroblastic, X-linked (XLSA) | Swiss-Prot | VAR_066243 | Disease | p.ARG572HIS | Anemia, sideroblastic, X-linked (XLSA) | Swiss-Prot | VAR_066236 | Disease | p.ASP263ASN | Anemia, sideroblastic, X-linked (XLSA) | Swiss-Prot | VAR_018604 | Disease | p.ASP159TYR | Anemia, sideroblastic, X-linked (XLSA) | Swiss-Prot | VAR_066235 | Disease | p.GLU242LYS | Anemia, sideroblastic, X-linked (XLSA) | Swiss-Prot | VAR_000564 | Disease | p.ILE476ASN | Anemia, sideroblastic, X-linked (XLSA) | Swiss-Prot | VAR_066232 | Disease | p.LYS156GLU | Anemia, sideroblastic, X-linked (XLSA) | Swiss-Prot | VAR_066237 | Disease | p.PRO339LEU | Anemia, sideroblastic, X-linked (XLSA) | Swiss-Prot | VAR_066242 | Polymorphism | p.PRO520LEU | N/A | Swiss-Prot | VAR_000562 | Disease | p.THR388SER | Anemia, sideroblastic, X-linked (XLSA) | Swiss-Prot | VAR_012334 | Disease | p.TYR199HIS | Anemia, sideroblastic, X-linked (XLSA) | Swiss-Prot | VAR_066244 | Polymorphism | p.TYR586PHE | N/A | OMIM | 301300.0006 | Disease | p.ALA172THR | ANEMIA, HEREDITARY SIDEROBLASTIC, LATE-ONSET | OMIM | 301300.0008 | Disease | p.ARG411CYS | ANEMIA, HEREDITARY SIDEROBLASTIC | OMIM | 301300.0018 | Disease | p.ARG452CYS | ANEMIA, HEREDITARY SIDEROBLASTIC | OMIM | 301300.0012 | Disease | p.ASP159ASN | ANEMIA, HEREDITARY SIDEROBLASTIC | OMIM | 301300.0011 | Disease | p.ASP159TYR | ANEMIA, HEREDITARY SIDEROBLASTIC | OMIM | 301300.0007 | Disease | p.ASP190VAL | ANEMIA, HEREDITARY SIDEROBLASTIC, PYRIDOXINE REFRACTORY | OMIM | 301300.0010 | Disease | p.CYS395TYR | ANEMIA, HEREDITARY SIDEROBLASTIC | OMIM | 301300.0019 | Disease | p.GLN548TER | PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED DOMINANT | OMIM | 301300.0004 | Disease | p.GLY291SER | ANEMIA, HEREDITARY SIDEROBLASTIC | OMIM | 301300.0014 | Disease | p.HIS524ASP | ANEMIA, HEREDITARY SIDEROBLASTIC | OMIM | 301300.0001 | Disease | p.ILE471ASN | ANEMIA, HEREDITARY SIDEROBLASTIC | OMIM | 301300.0005 | Disease | p.LYS299GLN | ANEMIA, HEREDITARY SIDEROBLASTIC, LATE-ONSET | OMIM | 301300.0003 | Disease | p.PHE165LEU | ANEMIA, HEREDITARY SIDEROBLASTIC | OMIM | 301300.0009 | Disease | p.SER568GLY | ANEMIA, HEREDITARY SIDEROBLASTIC | OMIM | 301300.0002 | Disease | p.THR388SER | ANEMIA, HEREDITARY SIDEROBLASTIC | OMIM | 301300.0017 | Disease | p.TYR199HIS | ANEMIA, HEREDITARY SIDEROBLASTIC |
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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