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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 Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs35518570 | Polymorphism | p.ALA259VAL | N/A | Swiss-Prot | VAR_012256 | Disease | p.ARG263GLN | Sitosterolemia (STSL) | Swiss-Prot | VAR_012252 | Disease | p.ARG184HIS | Sitosterolemia (STSL) | Swiss-Prot | VAR_012258 | Disease | p.ARG405HIS | Sitosterolemia (STSL) | Swiss-Prot | VAR_012260 | Disease | p.ARG543SER | Sitosterolemia (STSL) | dbSNP | rs11887534 | Polymorphism | p.ASP19ASN | N/A | Swiss-Prot | VAR_012250 | Polymorphism | p.ASP19HIS | N/A | dbSNP | rs80025980 | Polymorphism | p.CYS80TYR | N/A | Swiss-Prot | VAR_012254 | Polymorphism | p.GLU238LYS | N/A | Swiss-Prot | VAR_012264 | Disease | p.GLY574ARG | Sitosterolemia (STSL) | Swiss-Prot | VAR_012265 | Polymorphism | p.GLY575ARG | N/A | Swiss-Prot | VAR_012263 | Disease | p.GLY574GLU | Sitosterolemia (STSL) | Swiss-Prot | VAR_012266 | Disease | p.LEU596ARG | Sitosterolemia (STSL) | Swiss-Prot | VAR_012259 | Disease | p.LEU501PRO | Sitosterolemia (STSL) | Swiss-Prot | VAR_012262 | Disease | p.LEU572PRO | Sitosterolemia (STSL) | Swiss-Prot | VAR_022075 | Polymorphism | p.MET655VAL | N/A | Swiss-Prot | VAR_012253 | Disease | p.PRO231THR | Sitosterolemia (STSL) | dbSNP | rs4148217 | Polymorphism | p.THR400LYS | N/A | dbSNP | rs4148211 | Polymorphism | p.TYR54CYS | N/A | Swiss-Prot | VAR_020785 | Polymorphism | p.TYR641PHE | N/A | dbSNP | rs6544718 | Polymorphism | p.VAL632ALA | N/A | dbSNP | rs9282574 | Polymorphism | p.VAL210MET | N/A | OMIM | 605460.0004 | Disease | p.ARG263GLN | SITOSTEROLEMIA | OMIM | 605460.0006 | Disease | p.ARG412TER | SITOSTEROLEMIA | OMIM | 605460.0009 | Disease | p.ASP19HIS | GALLBLADDER DISEASE 4 | OMIM | 605460.0002 | Disease | p.GLY574ARG | SITOSTEROLEMIA | OMIM | 605460.0007 | Disease | p.LEU596ARG | SITOSTEROLEMIA | OMIM | 605460.0008 | Disease | p.PRO231THR | SITOSTEROLEMIA | OMIM | 605460.0010 | Disease | p.SER107TER | SITOSTEROLEMIA | OMIM | 605460.0001 | Disease | p.TRP361TER | SITOSTEROLEMIA | OMIM | 605460.0003 | Disease | p.TYR658TER | SITOSTEROLEMIA |
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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