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Known Diseases associated with this Protein: |  HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL 3 (HHC3)
| HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III
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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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| Swiss-Prot | VAR_069570 | Disease | p.ARG15CYS | Hypocalciuric hypercalcemia, familial 3 (HHC3) | | Swiss-Prot | VAR_069571 | Disease | p.ARG15HIS | Hypocalciuric hypercalcemia, familial 3 (HHC3) | | Swiss-Prot | VAR_069572 | Disease | p.ARG15LEU | Hypocalciuric hypercalcemia, familial 3 (HHC3) | | OMIM | 602242.0001 | Disease | p.ARG15CYS | HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III | | OMIM | 602242.0003 | Disease | p.ARG15HIS | HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III | | OMIM | 602242.0002 | Disease | p.ARG15LEU | HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III |
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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51338780
AP2S1_HUMAN RecName: Full=AP-2 complex subunit sigma; AltName: Full=Adapter-related protein complex 2 subunit sigma; AltName: Full=Adaptor protein complex AP-2 subunit sigma; AltName: Full=Clathrin assembly protein 2 sigma small chain; AltName: Full=Clathrin coat assembly protein AP17; AltName: Full=Clathrin coat-associated protein AP17; AltName: Full=HA2 17 kDa subunit; AltName: Full=Plasma membrane adaptor AP-2 17 kDa protein; AltName: Full=Sigma2-adaptin
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