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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_020867 | Polymorphism | p.ALA187PRO | N/A | Swiss-Prot | VAR_032741 | Disease | p.ARG318CYS | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) | Swiss-Prot | VAR_020874 | Disease | p.ARG319CYS | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) | Swiss-Prot | VAR_020870 | Disease | p.ARG243GLN | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) | Swiss-Prot | VAR_032738 | Disease | p.ARG266GLN | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) | Swiss-Prot | VAR_032742 | Disease | p.ARG318GLN | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) | Swiss-Prot | VAR_020875 | Disease | p.ARG337GLN | Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome) | Swiss-Prot | VAR_020876 | Disease | p.ARG343GLN | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) | Swiss-Prot | VAR_035127 | Disease | p.ARG352GLY | Non-syndromic orofacial cleft 8 (OFC8) | Swiss-Prot | VAR_020873 | Disease | p.ARG318HIS | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) | Swiss-Prot | VAR_032743 | Disease | p.ARG319HIS | Split-hand/foot malformation 4 (SHFM4) | Swiss-Prot | VAR_032744 | Disease | p.ARG319SER | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) | Swiss-Prot | VAR_020871 | Disease | p.ARG243TRP | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) | Swiss-Prot | VAR_032745 | Disease | p.ARG343TRP | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) | Swiss-Prot | VAR_020878 | Disease | p.ASP351GLY | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) | Swiss-Prot | VAR_032748 | Disease | p.ASP351HIS | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) | Swiss-Prot | VAR_035130 | Polymorphism | p.ASP603HIS | N/A | Swiss-Prot | VAR_020877 | Disease | p.CYS345ARG | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) | Swiss-Prot | VAR_020881 | Disease | p.CYS561GLY | Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) | Swiss-Prot | VAR_032746 | Disease | p.CYS347SER | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) | Swiss-Prot | VAR_032739 | Disease | p.CYS308TYR | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) | Swiss-Prot | VAR_020868 | Polymorphism | p.GLN204LEU | N/A | Swiss-Prot | VAR_035128 | Disease | p.ILE549THR | Ectodermal dysplasia, Rapp-Hodgkin type (EDRH) | Swiss-Prot | VAR_020879 | Disease | p.LEU553PHE | Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) | Swiss-Prot | VAR_032737 | Disease | p.LYS232GLU | Split-hand/foot malformation 4 (SHFM4) | Swiss-Prot | VAR_020869 | Disease | p.LYS233GLU | Split-hand/foot malformation 4 (SHFM4) | Swiss-Prot | VAR_020872 | Polymorphism | p.PRO279HIS | N/A | Swiss-Prot | VAR_032747 | Disease | p.PRO348SER | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) | Swiss-Prot | VAR_020880 | Polymorphism | p.SER560ALA | N/A | Swiss-Prot | VAR_032740 | Disease | p.SER311ASN | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) | Swiss-Prot | VAR_035126 | Polymorphism | p.SER129LEU | N/A | Swiss-Prot | VAR_020866 | Polymorphism | p.SER184LEU | N/A | Swiss-Prot | VAR_035129 | Disease | p.SER580PRO | Ectodermal dysplasia, Rapp-Hodgkin type (EDRH) | OMIM | 603273.0006 | Disease | p.ARG280CYS | SPLIT-HAND/FOOT MALFORMATION 4 | OMIM | 603273.0023 | Disease | p.ARG97CYS | SPLIT-HAND/FOOT MALFORMATION 4 | OMIM | 603273.0002 | Disease | p.ARG204GLN | ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME||3 | OMIM | 603273.0024 | Disease | p.ARG227GLN | ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME||3||ADULT SYNDROME, INCLUDED | OMIM | 603273.0014 | Disease | p.ARG298GLN | ADULT SYNDROME | OMIM | 603273.0008 | Disease | p.ARG304GLN | ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME||3 | OMIM | 603273.0022 | Disease | p.ARG298GLY | ADULT SYNDROME | OMIM | 603273.0021 | Disease | p.ARG313GLY | OROFACIAL CLEFT 8 | OMIM | 603273.0007 | Disease | p.ARG279HIS | ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME||3||RAPP-HODGKIN SYNDROME, INCLUDED | OMIM | 603273.0028 | Disease | p.ARG227PRO | ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME||3 | OMIM | 603273.0019 | Disease | p.ARG545PRO | RAPP-HODGKIN SYNDROME | OMIM | 603273.0001 | Disease | p.ARG204TRP | ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME||3 | OMIM | 603273.0011 | Disease | p.ASN6HIS | ADULT SYNDROME | OMIM | 603273.0015 | Disease | p.ASP312GLY | ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME||3 | OMIM | 603273.0003 | Disease | p.CYS306ARG | ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME||3 | OMIM | 603273.0010 | Disease | p.CYS522GLY | ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE | OMIM | 603273.0018 | Disease | p.ILE510THR | ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE||RAPP-HODGKIN SYNDROME, INCLUDED | OMIM | 603273.0009 | Disease | p.LEU514PHE | ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE | OMIM | 603273.0005 | Disease | p.LYS194GLU | SPLIT-HAND/FOOT MALFORMATION 4 | OMIM | 603273.0026 | Disease | p.PRO127LEU | ADULT SYNDROME | OMIM | 603273.0020 | Disease | p.VAL114MET | ADULT 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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