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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_057979 | Polymorphism | p.ALA70VAL | N/A | Swiss-Prot | VAR_021584 | Disease | p.ARG254GLY | Farber lipogranulomatosis (FL) | Swiss-Prot | VAR_021585 | Disease | p.ASN320ASP | Farber lipogranulomatosis (FL) | dbSNP | rs2472205 | Polymorphism | p.ASP124GLU | N/A | Swiss-Prot | VAR_038166 | Disease | p.GLN22HIS | Farber lipogranulomatosis (FL) | Swiss-Prot | VAR_021582 | Disease | p.GLU138VAL | Farber lipogranulomatosis (FL) | Swiss-Prot | VAR_021583 | Disease | p.GLY235ARG | Farber lipogranulomatosis (FL) | Swiss-Prot | VAR_038167 | Disease | p.HIS23ASP | Farber lipogranulomatosis (FL) | dbSNP | rs1049874 | Polymorphism | p.ILE93VAL | N/A | Swiss-Prot | VAR_038169 | Disease | p.LEU182VAL | Farber lipogranulomatosis (FL) | Swiss-Prot | VAR_021586 | Disease | p.PRO362ARG | Farber lipogranulomatosis (FL) | Swiss-Prot | VAR_008862 | Disease | p.THR222LYS | Farber lipogranulomatosis (FL) | Swiss-Prot | VAR_068722 | Disease | p.THR42MET | Spinal muscular atrophy with progressive myoclonic epilepsy (SMAPME) | Swiss-Prot | VAR_021579 | Disease | p.TYR36CYS | Farber lipogranulomatosis (FL) | dbSNP | rs10103355 | Polymorphism | p.VAL246ALA | N/A | Swiss-Prot | VAR_021581 | Disease | p.VAL97GLU | Farber lipogranulomatosis (FL) | Swiss-Prot | VAR_021587 | Polymorphism | p.VAL369ILE | N/A | dbSNP | rs1071645 | Polymorphism | p.VAL72MET | N/A | Swiss-Prot | VAR_057980 | Polymorphism | p.VAL88MET | N/A | OMIM | 613468.0004 | Disease | p.ASN304ASP | FARBER LIPOGRANULOMATOSIS | OMIM | 613468.0002 | Disease | p.GLU122VAL | FARBER LIPOGRANULOMATOSIS | OMIM | 613468.0005 | Disease | p.LEU166VAL | FARBER LIPOGRANULOMATOSIS | OMIM | 613468.0001 | Disease | p.THR206LYS | FARBER LIPOGRANULOMATOSIS |
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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