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Known Diseases associated with this Protein: | CYSTINURIA
| CYSTINURIA (CSNU)
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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_022601 | Disease | p.ARG362CYS | Cystinuria (CSNU) | Swiss-Prot | VAR_011421 | Disease | p.ARG181GLN | Cystinuria (CSNU) | Swiss-Prot | VAR_038202 | Disease | p.ARG362HIS | Cystinuria (CSNU) | Swiss-Prot | VAR_038207 | Disease | p.ARG584THR | Cystinuria (CSNU) | Swiss-Prot | VAR_011424 | Disease | p.ARG365TRP | Cystinuria (CSNU) | Swiss-Prot | VAR_011425 | Disease | p.ARG452TRP | Cystinuria (CSNU) | Swiss-Prot | VAR_038201 | Disease | p.ASN253LYS | Cystinuria (CSNU) | Swiss-Prot | VAR_038206 | Disease | p.GLN510ARG | Cystinuria (CSNU) | Swiss-Prot | VAR_011422 | Disease | p.GLU268LYS | Cystinuria (CSNU) | Swiss-Prot | VAR_038205 | Disease | p.GLU482LYS | Cystinuria (CSNU) | Swiss-Prot | VAR_038203 | Disease | p.GLY398ARG | Cystinuria (CSNU) | Swiss-Prot | VAR_038209 | Disease | p.GLY600GLU | Cystinuria (CSNU) | Swiss-Prot | VAR_038204 | Disease | p.GLY481VAL | Cystinuria (CSNU) | Swiss-Prot | VAR_011434 | Disease | p.LEU678PRO | Cystinuria (CSNU) | dbSNP | rs698761 | Polymorphism | p.MET618ILE | N/A | Swiss-Prot | VAR_011428 | Disease | p.MET467LYS | Cystinuria (CSNU) | Swiss-Prot | VAR_011427 | Disease | p.MET467THR | Cystinuria (CSNU) | Swiss-Prot | VAR_038208 | Disease | p.PHE599SER | Cystinuria (CSNU) | Swiss-Prot | VAR_011432 | Disease | p.PHE648SER | Cystinuria (CSNU) | Swiss-Prot | VAR_022602 | Disease | p.PRO508ALA | Cystinuria (CSNU) | Swiss-Prot | VAR_011420 | Disease | p.PRO128GLN | Cystinuria (CSNU) | Swiss-Prot | VAR_064040 | Disease | p.PRO122SER | Cystinuria (CSNU) | Swiss-Prot | VAR_011430 | Disease | p.PRO615THR | Cystinuria (CSNU) | Swiss-Prot | VAR_011423 | Disease | p.THR341ALA | Cystinuria (CSNU) | Swiss-Prot | VAR_011433 | Disease | p.THR652ARG | Cystinuria (CSNU) | Swiss-Prot | VAR_022600 | Disease | p.THR216MET | Cystinuria (CSNU) | Swiss-Prot | VAR_038200 | Disease | p.TYR151CYS | Cystinuria (CSNU) | Swiss-Prot | VAR_011426 | Disease | p.TYR461HIS | Cystinuria (CSNU) | Swiss-Prot | VAR_011429 | Disease | p.TYR582HIS | Cystinuria (CSNU) | OMIM | 104614.0004 | Disease | p.ARG181GLN | CYSTINURIA | OMIM | 104614.0008 | Disease | p.ARG362HIS | CYSTINURIA | OMIM | 104614.0003 | Disease | p.LEU678PRO | CYSTINURIA | OMIM | 104614.0002 | Disease | p.MET467LYS | CYSTINURIA | OMIM | 104614.0001 | Disease | p.MET467THR | CYSTINURIA | OMIM | 104614.0006 | Disease | p.PRO615THR | CYSTINURIA | OMIM | 104614.0005 | Disease | p.THR652ARG | CYSTINURIA | OMIM | 104614.0009 | Disease | p.TYR533ASN | CYSTINURIA |
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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