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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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 Default View:
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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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| Swiss-Prot | VAR_070165 | Disease | p.ARG60CYS | Hypocalcemia, autosomal dominant 2 (HYPOC2) | | Swiss-Prot | VAR_070167 | Disease | p.ARG181GLN | Hypocalcemia, autosomal dominant 2 (HYPOC2) | | Swiss-Prot | VAR_070166 | Disease | p.LEU135GLN | Hypocalciuric hypercalcemia, familial 2 (HHC2) | | Swiss-Prot | VAR_070170 | Disease | p.PHE341LEU | Hypocalcemia, autosomal dominant 2 (HYPOC2) | | Swiss-Prot | VAR_070169 | Disease | p.SER211TRP | Hypocalcemia, autosomal dominant 2 (HYPOC2) | | OMIM | 139313.0005 | Disease | p.ARG60CYS | HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 | | OMIM | 139313.0003 | Disease | p.ARG181GLN | HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 | | OMIM | 139313.0002 | Disease | p.LEU135GLN | HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II | | OMIM | 139313.0004 | Disease | p.PHE341LEU | HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 | | OMIM | 139313.0006 | Disease | p.SER211TRP | HYPOCALCEMIA, AUTOSOMAL DOMINANT 2 |
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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3041682
GNA11_HUMAN RecName: Full=Guanine nucleotide-binding protein subunit alpha-11; Short=G alpha-11; Short=G-protein subunit alpha-11; AltName: Full=Guanine nucleotide-binding protein G(y) subunit alpha
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