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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 Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs13306698 | Polymorphism | p.ARG160GLY | N/A | | dbSNP | rs662 | Polymorphism | p.GLN192ARG | N/A | | Swiss-Prot | VAR_015882 | Polymorphism | p.ILE102VAL | N/A | | Swiss-Prot | VAR_006043 | Polymorphism | p.LEU55MET | N/A | | dbSNP | rs854560 | Polymorphism | p.LEU55VAL | N/A | | OMIM | 168820.0001 | Disease | p.GLN192ARG | PON1 ENZYME ACTIVITY, VARIATION IN||CORONARY ARTERY DISEASE, SUSCEPTIBILITY TO, INCLUDED;;||CORONARY ARTERY SPASM 2, SUS | | OMIM | 168820.0002 | Disease | p.LEU55MET | PON1 ENZYME ACTIVITY, VARIATION IN||CORONARY ARTERY DISEASE, SUSCEPTIBILITY TO, INCLUDED;;||MICROVASCULAR COMPLICATIONS |
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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308153572
PON1_HUMAN RecName: Full=Serum paraoxonase/arylesterase 1; Short=PON 1; AltName: Full=Aromatic esterase 1; Short=A-esterase 1; AltName: Full=K-45; AltName: Full=Serum aryldialkylphosphatase 1
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