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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_000699 | Disease | p.ALA629PRO | Menkes disease (MNKD) | Swiss-Prot | VAR_023267 | Disease | p.ALA1007VAL | Menkes disease (MNKD) | Swiss-Prot | VAR_023276 | Disease | p.ALA1325VAL | Menkes disease (MNKD) | Swiss-Prot | VAR_010008 | Disease | p.ALA1362VAL | Menkes disease (MNKD) | Swiss-Prot | VAR_016120 | Polymorphism | p.ARG703HIS | N/A | Swiss-Prot | VAR_023262 | Disease | p.ARG844HIS | Menkes disease (MNKD) | Swiss-Prot | VAR_023274 | Disease | p.ASN1304LYS | Menkes disease (MNKD) | Swiss-Prot | VAR_063883 | Disease | p.ASN1304SER | Occipital horn syndrome (OHS) | Swiss-Prot | VAR_010007 | Disease | p.ASP1305ALA | Menkes disease (MNKD) | Swiss-Prot | VAR_023269 | Disease | p.ASP1044GLY | Menkes disease (MNKD) | Swiss-Prot | VAR_010003 | Disease | p.CYS1000ARG | Menkes disease (MNKD) | Swiss-Prot | VAR_023266 | Disease | p.GLN924ARG | Menkes disease (MNKD) | Swiss-Prot | VAR_023272 | Disease | p.GLY1255ARG | Menkes disease (MNKD) | Swiss-Prot | VAR_010005 | Disease | p.GLY1302ARG | Menkes disease (MNKD) | Swiss-Prot | VAR_023275 | Disease | p.GLY1315ARG | Menkes disease (MNKD) | Swiss-Prot | VAR_023279 | Disease | p.GLY1369ARG | Menkes disease (MNKD) | Swiss-Prot | VAR_000700 | Disease | p.GLY727ARG | Menkes disease (MNKD) | Swiss-Prot | VAR_023263 | Disease | p.GLY853ARG | Menkes disease (MNKD) | Swiss-Prot | VAR_023265 | Disease | p.GLY876ARG | Menkes disease (MNKD) | Swiss-Prot | VAR_023268 | Disease | p.GLY1015ASP | Menkes disease (MNKD) | Swiss-Prot | VAR_000702 | Disease | p.GLY1019ASP | Menkes disease (MNKD) | Swiss-Prot | VAR_023271 | Disease | p.GLY1118ASP | Menkes disease (MNKD) | Swiss-Prot | VAR_010004 | Disease | p.GLY1300GLU | Menkes disease (MNKD) | Swiss-Prot | VAR_010002 | Disease | p.GLY876GLU | Menkes disease (MNKD) | Swiss-Prot | VAR_010006 | Disease | p.GLY1302VAL | Menkes disease (MNKD) | Swiss-Prot | VAR_023264 | Disease | p.GLY860VAL | Menkes disease (MNKD) | Swiss-Prot | VAR_023278 | Disease | p.ILE1345PHE | Menkes disease (MNKD) | Swiss-Prot | VAR_016119 | Polymorphism | p.ILE669THR | N/A | Swiss-Prot | VAR_016121 | Polymorphism | p.ILE1464VAL | N/A | Swiss-Prot | VAR_023261 | Disease | p.LEU706ARG | Menkes disease (MNKD) | Swiss-Prot | VAR_010001 | Disease | p.LEU873ARG | Menkes disease (MNKD) | Swiss-Prot | VAR_000701 | Disease | p.LEU1006PRO | Menkes disease (MNKD) | Swiss-Prot | VAR_023270 | Disease | p.LEU1100PRO | Menkes disease (MNKD) | Swiss-Prot | VAR_023273 | Disease | p.LYS1282GLU | Menkes disease (MNKD) | Swiss-Prot | VAR_063884 | Disease | p.PRO1386SER | Distal spinal muscular atrophy, X-linked, 3 (DSMAX3) | Swiss-Prot | VAR_023277 | Disease | p.SER1344ARG | Menkes disease (MNKD) | Swiss-Prot | VAR_009999 | Disease | p.SER637LEU | Occipital horn syndrome (OHS) | Swiss-Prot | VAR_023280 | Disease | p.SER1397PHE | Menkes disease (MNKD) | Swiss-Prot | VAR_068831 | Disease | p.THR1048ILE | Menkes disease (MNKD) | Swiss-Prot | VAR_063882 | Disease | p.THR994ILE | Distal spinal muscular atrophy, X-linked, 3 (DSMAX3) | Swiss-Prot | VAR_010000 | Polymorphism | p.VAL767LEU | N/A |
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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