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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_007534 | Disease | p.CYS79TYR | Triosephosphate isomerase deficiency (TPID) | Swiss-Prot | VAR_007536 | Disease | p.GLU142ASP | Triosephosphate isomerase deficiency (TPID) | Swiss-Prot | VAR_007535 | Disease | p.GLY110ALA | Triosephosphate isomerase deficiency (TPID) | Swiss-Prot | VAR_007537 | Polymorphism | p.GLY160ARG | N/A | Swiss-Prot | VAR_007539 | Disease | p.ILE208VAL | Triosephosphate isomerase deficiency (TPID) | Swiss-Prot | VAR_007541 | Disease | p.PHE278LEU | Triosephosphate isomerase deficiency (TPID) | Swiss-Prot | VAR_007538 | Disease | p.VAL192MET | Triosephosphate isomerase deficiency (TPID) | Swiss-Prot | VAR_007540 | Disease | p.VAL269MET | Triosephosphate isomerase deficiency (TPID) | OMIM | 190450.0004 | Disease | p.CYS41TYR | TRIOSEPHOSPHATE ISOMERASE DEFICIENCY | OMIM | 190450.0001 | Disease | p.GLU104ASP | TRIOSEPHOSPHATE ISOMERASE DEFICIENCY | OMIM | 190450.0006 | Disease | p.GLU145TER | TRIOSEPHOSPHATE ISOMERASE DEFICIENCY | OMIM | 190450.0002 | Disease | p.GLY122ARG | TRIOSEPHOSPHATE ISOMERASE MANCHESTER||TPI-MANCHESTER | OMIM | 190450.0005 | Disease | p.ILE170VAL | TRIOSEPHOSPHATE ISOMERASE DEFICIENCY | OMIM | 190450.0003 | Disease | p.PHE240LEU | TRIOSEPHOSPHATE ISOMERASE DEFICIENCY||TPI-HUNGARY |
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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