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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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Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_006047 | Disease | p.CYS18ARG | Hypoparathyroidism, familial isolated (FIH) | | Swiss-Prot | VAR_018464 | Disease | p.SER23PRO | Hypoparathyroidism, familial isolated (FIH) | | OMIM | 168450.0004 | Disease | p.ARG83TER | HYPERPARATHYROIDISM, PRIMARY | | OMIM | 168450.0001 | Disease | p.CYS18ARG | HYPOPARATHYROIDISM, FAMILIAL ISOLATED | | OMIM | 168450.0003 | Disease | p.SER23PRO | HYPOPARATHYROIDISM, FAMILIAL ISOLATED |
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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131547
PTHY_HUMAN RecName: Full=Parathyroid hormone; Short=PTH; AltName: Full=Parathormone; AltName: Full=Parathyrin; Flags: Precursor
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