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Known Diseases associated with this Protein: |  HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA
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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 Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs115354606 | Polymorphism | p.HIS542TYR | N/A | | dbSNP | rs2274924 | Polymorphism | p.LYS1579GLU | N/A | | dbSNP | rs1333342 | Polymorphism | p.THR2ILE | N/A | | dbSNP | rs3750425 | Polymorphism | p.VAL1388ILE | N/A | | OMIM | 607009.0007 | Disease | p.ARG479TER | HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA | | OMIM | 607009.0008 | Disease | p.ARG51TER | HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA | | OMIM | 607009.0011 | Disease | p.SER136LEU | HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA | | OMIM | 607009.0001 | Disease | p.SER585TER | HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA |
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.
| DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD
21250 | Department of Biological Sciences | Phone: 410-455-2258 |
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293597574
transient receptor potential cation channel subfamily M member 6 isoform c [Homo sapiens]
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