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Known Diseases associated with this Protein: | HYPERCHOLESTEROLEMIA DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B100
| HYPOBETALIPOPROTEINEMIA, FAMILIAL
| HYPOBETALIPOPROTEINEMIA, FAMILIAL, ASSOCIATED WITH APOB32
| HYPOBETALIPOPROTEINEMIA, FAMILIAL, ASSOCIATED WITH APOB40
| HYPOBETALIPOPROTEINEMIA, FAMILIAL, ASSOCIATED WITH APOB46
| HYPOBETALIPOPROTEINEMIA, FAMILIAL, ASSOCIATED WITH APOB90 OR APOB89
| HYPOBETALIPOPROTEINEMIA, NORMOTRIGLYCERIDEMIC
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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs12713675 | Polymorphism | p.ALA2456ASP | N/A | dbSNP | rs1801695 | Polymorphism | p.ALA4481PRO | N/A | dbSNP | rs61741467 | Polymorphism | p.ALA1042VAL | N/A | dbSNP | rs679899 | Polymorphism | p.ALA618VAL | N/A | dbSNP | rs1801701 | Polymorphism | p.ARG3638GLN | N/A | dbSNP | rs1801702 | Polymorphism | p.ARG4270THR | N/A | dbSNP | rs13306194 | Polymorphism | p.ARG532TRP | N/A | dbSNP | rs2163204 | Polymorphism | p.ASN2785HIS | N/A | dbSNP | rs1042031 | Polymorphism | p.GLU4181LYS | N/A | dbSNP | rs533617 | Polymorphism | p.HIS1923ARG | N/A | dbSNP | rs12714225 | Polymorphism | p.ILE408THR | N/A | dbSNP | rs584542 | Polymorphism | p.ILE2313VAL | N/A | dbSNP | rs61736761 | Polymorphism | p.LEU1212MET | N/A | dbSNP | rs676210 | Polymorphism | p.PRO2739LEU | N/A | dbSNP | rs6752026 | Polymorphism | p.PRO145SER | N/A | dbSNP | rs13306206 | Polymorphism | p.PRO955SER | N/A | dbSNP | rs1042034 | Polymorphism | p.SER4338ASN | N/A | dbSNP | rs12720855 | Polymorphism | p.SER3294PRO | N/A | dbSNP | rs61743299 | Polymorphism | p.SER4233THR | N/A | dbSNP | rs12714192 | Polymorphism | p.THR741ASN | N/A | dbSNP | rs1367117 | Polymorphism | p.THR98ILE | N/A | dbSNP | rs13306198 | Polymorphism | p.THR194MET | N/A | dbSNP | rs12713450 | Polymorphism | p.THR4484MET | N/A | dbSNP | rs12691202 | Polymorphism | p.VAL730ILE | N/A | dbSNP | rs1801703 | Polymorphism | p.VAL4128MET | N/A | OMIM | 107730.0017 | Disease | p.ARG3531CYS | HYPERCHOLESTEROLEMIA DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B100 | OMIM | 107730.0009 | Disease | p.ARG3500GLN | HYPERCHOLESTEROLEMIA DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B100 | OMIM | 107730.0003 | Disease | p.ARG1306TER | HYPOBETALIPOPROTEINEMIA, FAMILIAL | OMIM | 107730.0006 | Disease | p.ARG2058TER | HYPOBETALIPOPROTEINEMIA, FAMILIAL, ASSOCIATED WITH APOB46 | OMIM | 107730.0015 | Disease | p.ARG2495TER | HYPOBETALIPOPROTEINEMIA, FAMILIAL | OMIM | 107730.0014 | Disease | p.GLN1450TER | HYPOBETALIPOPROTEINEMIA, FAMILIAL, ASSOCIATED WITH APOB32 | OMIM | 107730.0013 | Disease | p.GLN2252TER | HYPOBETALIPOPROTEINEMIA, NORMOTRIGLYCERIDEMIC | OMIM | 107730.0005 | Disease | p.GLU4034ARG | HYPOBETALIPOPROTEINEMIA, FAMILIAL, ASSOCIATED WITH APOB90 OR APOB89 | OMIM | 107730.0012 | Disease | p.LEU3041TER | HYPOBETALIPOPROTEINEMIA, FAMILIAL | OMIM | 107730.0021 | Disease | p.TYR1173TER | HYPOBETALIPOPROTEINEMIA, NORMOTRIGLYCERIDEMIC | OMIM | 107730.0004 | Disease | p.VAL1829CYS | HYPOBETALIPOPROTEINEMIA, FAMILIAL, ASSOCIATED WITH APOB40 |
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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