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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_012702 | Polymorphism | p.ALA918ASP | N/A | dbSNP | rs5743278 | Polymorphism | p.ALA725GLY | N/A | Swiss-Prot | VAR_012665 | Polymorphism | p.ALA140THR | N/A | Swiss-Prot | VAR_012686 | Disease | p.ALA612THR | Sarcoidosis early-onset (EOS) | Swiss-Prot | VAR_012700 | Polymorphism | p.ALA885THR | N/A | Swiss-Prot | VAR_012674 | Polymorphism | p.ALA301VAL | N/A | dbSNP | rs2076754 | Polymorphism | p.ALA432VAL | N/A | Swiss-Prot | VAR_012687 | Polymorphism | p.ALA612VAL | N/A | Swiss-Prot | VAR_012693 | Polymorphism | p.ALA755VAL | N/A | Swiss-Prot | VAR_012694 | Polymorphism | p.ALA758VAL | N/A | Swiss-Prot | VAR_012668 | Polymorphism | p.ARG235CYS | N/A | Swiss-Prot | VAR_012680 | Polymorphism | p.ARG373CYS | N/A | Swiss-Prot | VAR_036872 | Polymorphism | p.ARG471CYS | N/A | Swiss-Prot | VAR_012690 | Polymorphism | p.ARG703CYS | N/A | Swiss-Prot | VAR_012691 | Polymorphism | p.ARG713CYS | N/A | Swiss-Prot | VAR_012676 | Disease | p.ARG334GLN | Blau syndrome (BS) | dbSNP | rs5743279 | Polymorphism | p.ARG790GLN | N/A | Swiss-Prot | VAR_012675 | Polymorphism | p.ARG311TRP | N/A | Swiss-Prot | VAR_012677 | Disease | p.ARG334TRP | Blau syndrome (BS) | Swiss-Prot | VAR_012688 | Polymorphism | p.ARG684TRP | N/A | dbSNP | rs2066844 | Polymorphism | p.ARG702TRP | N/A | Swiss-Prot | VAR_012671 | Polymorphism | p.ASN289SER | N/A | Swiss-Prot | VAR_012681 | Polymorphism | p.ASN414SER | N/A | Swiss-Prot | VAR_012698 | Polymorphism | p.ASN853SER | N/A | Swiss-Prot | VAR_012672 | Polymorphism | p.ASP291ASN | N/A | Swiss-Prot | VAR_023822 | Disease | p.ASP382GLU | Sarcoidosis early-onset (EOS) | dbSNP | rs61736931 | Polymorphism | p.GLN809ARG | N/A | Swiss-Prot | VAR_023823 | Disease | p.GLU383LYS | Blau syndrome (BS) | Swiss-Prot | VAR_012684 | Polymorphism | p.GLU441LYS | N/A | Swiss-Prot | VAR_012695 | Polymorphism | p.GLU778LYS | N/A | Swiss-Prot | VAR_012697 | Polymorphism | p.GLU843LYS | N/A | dbSNP | rs2066845 | Polymorphism | p.GLY908ARG | N/A | Swiss-Prot | VAR_012703 | Polymorphism | p.GLY924ASP | N/A | Swiss-Prot | VAR_012679 | Polymorphism | p.HIS352ARG | N/A | Swiss-Prot | VAR_023824 | Disease | p.HIS496LEU | Sarcoidosis early-onset (EOS) | Swiss-Prot | VAR_012669 | Polymorphism | p.LEU248ARG | N/A | Swiss-Prot | VAR_012685 | Disease | p.LEU469PHE | Blau syndrome (BS) | Swiss-Prot | VAR_012678 | Polymorphism | p.LEU348VAL | N/A | Swiss-Prot | VAR_036871 | Polymorphism | p.LEU81VAL | N/A | Swiss-Prot | VAR_012699 | Polymorphism | p.MET863VAL | N/A | dbSNP | rs2066842 | Polymorphism | p.PRO268SER | N/A | Swiss-Prot | VAR_012682 | Polymorphism | p.SER431LEU | N/A | Swiss-Prot | VAR_065228 | Disease | p.THR605ASN | Blau syndrome (BS) | Swiss-Prot | VAR_012667 | Polymorphism | p.THR189MET | N/A | Swiss-Prot | VAR_012673 | Polymorphism | p.THR294SER | N/A | Swiss-Prot | VAR_012666 | Polymorphism | p.TRP157ARG | N/A | dbSNP | rs5743291 | Polymorphism | p.VAL955ILE | N/A | Swiss-Prot | VAR_012696 | Polymorphism | p.VAL793MET | N/A | OMIM | 605956.0004 | Disease | p.ARG334GLN | BLAU SYNDROME | OMIM | 605956.0006 | Disease | p.ARG334TRP | BLAU SYNDROME||SARCOIDOSIS, EARLY-ONSET, INCLUDED | OMIM | 605956.0003 | Disease | p.ARG702TRP | INFLAMMATORY BOWEL DISEASE 1, SUSCEPTIBILITY TO | OMIM | 605956.0009 | Disease | p.ASP382GLU | SARCOIDOSIS, EARLY-ONSET | OMIM | 605956.0011 | Disease | p.GLU383LYS | BLAU SYNDROME | OMIM | 605956.0002 | Disease | p.GLY908ARG | INFLAMMATORY BOWEL DISEASE 1, SUSCEPTIBILITY TO | OMIM | 605956.0008 | Disease | p.HIS496LEU | SARCOIDOSIS, EARLY-ONSET | OMIM | 605956.0005 | Disease | p.LEU469PHE | BLAU SYNDROME |
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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