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Known Diseases associated with this Protein: | HYPERCALCEMIA INFANTILE (HCAI)
| HYPERCALCEMIA, INFANTILE
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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 Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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p450 | pfam00067 | 6.5e-103 | 58 | 513 |
Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_048464 | Polymorphism | p.ARG157GLN | N/A | Swiss-Prot | VAR_066409 | Disease | p.ARG159GLN | Hypercalcemia infantile (HCAI) | Swiss-Prot | VAR_066411 | Disease | p.ARG396TRP | Hypercalcemia infantile (HCAI) | Swiss-Prot | VAR_066410 | Disease | p.GLU322LYS | Hypercalcemia infantile (HCAI) | Swiss-Prot | VAR_048466 | Disease | p.LEU409SER | Hypercalcemia infantile (HCAI) | dbSNP | rs6022990 | Polymorphism | p.MET374THR | N/A | OMIM | 126065.0004 | Disease | p.ARG159GLN | HYPERCALCEMIA, INFANTILE | OMIM | 126065.0005 | Disease | p.ARG396TRP | HYPERCALCEMIA, INFANTILE | OMIM | 126065.0007 | Disease | p.GLU322LYS | HYPERCALCEMIA, INFANTILE | OMIM | 126065.0003 | Disease | p.GLU151TER | HYPERCALCEMIA, INFANTILE | OMIM | 126065.0006 | Disease | p.LEU409SER | HYPERCALCEMIA, INFANTILE |
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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