Known Diseases associated with this Protein: | LONG QT SYNDROME 12
| LONG QT SYNDROME 12 (LQT12)
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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_062399 | Disease | p.ALA257GLY | Long QT syndrome 12 (LQT12) | Swiss-Prot | VAR_062400 | Disease | p.ALA390VAL | Long QT syndrome 12 (LQT12) | Swiss-Prot | VAR_014075 | Polymorphism | p.LEU364PHE | N/A | OMIM | 601017.0001 | Disease | p.ALA390VAL | LONG QT SYNDROME 12 |
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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