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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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 Default View:
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 Domains found on the Protein Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs58694313 | Polymorphism | p.ALA1291THR | N/A | | dbSNP | rs2238472 | Polymorphism | p.ARG1268GLN | N/A | | dbSNP | rs72657698 | Polymorphism | p.ARG265GLY | N/A | | dbSNP | rs9930886 | Polymorphism | p.ASN411LYS | N/A | | dbSNP | rs57695665 | Polymorphism | p.GLY1327GLU | N/A | | dbSNP | rs8058694 | Polymorphism | p.HIS632GLN | N/A | | dbSNP | rs59593133 | Polymorphism | p.ILE742VAL | N/A | | dbSNP | rs60707953 | Polymorphism | p.LEU1097ILE | N/A | | dbSNP | rs111973031 | Polymorphism | p.MET848VAL | N/A | | dbSNP | rs12931472 | Polymorphism | p.VAL614ALA | N/A | | OMIM | 603234.0017 | Disease | p.ARG1339CYS | PSEUDOXANTHOMA ELASTICUM | | OMIM | 603234.0018 | Disease | p.ARG1459CYS | PSEUDOXANTHOMA ELASTICUM | | OMIM | 603234.0003 | Disease | p.ARG1138GLN | PSEUDOXANTHOMA ELASTICUM | | OMIM | 603234.0011 | Disease | p.ARG1268GLN | PSEUDOXANTHOMA ELASTICUM | | OMIM | 603234.0025 | Disease | p.ARG765GLN | PSEUDOXANTHOMA ELASTICUM||ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, INCLUDED | | OMIM | 603234.0004 | Disease | p.ARG1114PRO | PSEUDOXANTHOMA ELASTICUM | | OMIM | 603234.0001 | Disease | p.ARG1141TER | PSEUDOXANTHOMA ELASTICUM||ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, INCLUDED | | OMIM | 603234.0013 | Disease | p.ARG1164TER | PSEUDOXANTHOMA ELASTICUM | | OMIM | 603234.0027 | Disease | p.ARG518TER | ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2||PSEUDOXANTHOMA ELASTICUM, INCLUDED | | OMIM | 603234.0012 | Disease | p.ARG1138TRP | PSEUDOXANTHOMA ELASTICUM | | OMIM | 603234.0006 | Disease | p.ARG1314TRP | PSEUDOXANTHOMA ELASTICUM||ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, INCLUDED | | OMIM | 603234.0022 | Disease | p.ASP1238HIS | PSEUDOXANTHOMA ELASTICUM | | OMIM | 603234.0026 | Disease | p.GLN1406LYS | PSEUDOXANTHOMA ELASTICUM||ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, INCLUDED | | OMIM | 603234.0020 | Disease | p.GLY1302ARG | PSEUDOXANTHOMA ELASTICUM | | OMIM | 603234.0021 | Disease | p.GLY1321SER | PSEUDOXANTHOMA ELASTICUM | | OMIM | 603234.0024 | Disease | p.THR1130MET | PSEUDOXANTHOMA ELASTICUM | | OMIM | 603234.0019 | Disease | p.VAL1298PHE | PSEUDOXANTHOMA ELASTICUM |
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.
| DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD
21250 | Department of Biological Sciences | Phone: 410-455-2258 |
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190343023
multidrug resistance-associated protein 6 isoform 1 [Homo sapiens]
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