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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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| Swiss-Prot | VAR_025066 | Polymorphism | p.ARG613HIS | N/A | | Swiss-Prot | VAR_011866 | Polymorphism | p.GLU379LYS | N/A | | Swiss-Prot | VAR_025065 | Polymorphism | p.ILE561VAL | N/A | | Swiss-Prot | VAR_025064 | Polymorphism | p.LEU464ILE | N/A | | Swiss-Prot | VAR_025063 | Polymorphism | p.PRO262HIS | N/A | | dbSNP | rs6149 | Polymorphism | p.VAL59ILE | N/A | | Swiss-Prot | VAR_025067 | Polymorphism | p.VAL791ILE | N/A | | OMIM | 192977.0002 | Disease | p.ARG257TER | CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH QUADRUPEDAL LOCOMOTION||1 | | OMIM | 192977.0004 | Disease | p.ARG448TER | CEREBELLAR ATAXIA, CONGENITAL, AND MENTAL RETARDATION, AUTOSOMAL RECESSIVE | | OMIM | 192977.0006 | Disease | p.CYS706PHE | CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME||1 |
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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1730111
VLDLR_HUMAN RecName: Full=Very low-density lipoprotein receptor; Short=VLDL receptor; Short=VLDL-R; Flags: Precursor
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