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Known Diseases associated with this Protein: | POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY
| POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY (PLOSL)
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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_019334 | Disease | p.ASP134GLY | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) | Swiss-Prot | VAR_033625 | Polymorphism | p.HIS157TYR | N/A | dbSNP | rs2234256 | Polymorphism | p.LEU211PRO | N/A | Swiss-Prot | VAR_019335 | Disease | p.LYS186ASN | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) | dbSNP | rs2234253 | Polymorphism | p.THR96ARG | N/A | Swiss-Prot | VAR_061329 | Polymorphism | p.THR96LYS | N/A | OMIM | 605086.0003 | Disease | p.ASP134GLY | POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY | OMIM | 605086.0007 | Disease | p.GLN33TER | POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY | OMIM | 605086.0002 | Disease | p.LYS186ASN | POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY | OMIM | 605086.0005 | Disease | p.TRP44TER | POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY | OMIM | 605086.0001 | Disease | p.TRP78TER | POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY | OMIM | 605086.0006 | Disease | p.VAL126GLY | POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY |
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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