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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_010717 | Disease | p.ARG176GLN | Hypophosphatemic rickets, autosomal dominant (ADHR) | | Swiss-Prot | VAR_010719 | Disease | p.ARG179GLN | Hypophosphatemic rickets, autosomal dominant (ADHR) | | Swiss-Prot | VAR_010718 | Disease | p.ARG179TRP | Hypophosphatemic rickets, autosomal dominant (ADHR) | | Swiss-Prot | VAR_018887 | Polymorphism | p.PRO195SER | N/A | | Swiss-Prot | VAR_023831 | Disease | p.SER71GLY | Tumoral calcinosis, hyperphosphatemic, familial (HFTC) | | dbSNP | rs7955866 | Polymorphism | p.THR239MET | N/A | | OMIM | 605380.0001 | Disease | p.ARG176GLN | HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT | | OMIM | 605380.0002 | Disease | p.ARG179TRP | HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT | | OMIM | 605380.0004 | Disease | p.MET96THR | TUMORAL CALCINOSIS, FAMILIAL, HYPERPHOSPHATEMIC | | OMIM | 605380.0003 | Disease | p.SER71GLY | TUMORAL CALCINOSIS, FAMILIAL, HYPERPHOSPHATEMIC | | OMIM | 605380.0005 | Disease | p.SER129PHE | TUMORAL CALCINOSIS, FAMILIAL, HYPERPHOSPHATEMIC |
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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13626688
FGF23_HUMAN RecName: Full=Fibroblast growth factor 23; Short=FGF-23; AltName: Full=Phosphatonin; AltName: Full=Tumor-derived hypophosphatemia-inducing factor; Contains: RecName: Full=Fibroblast growth factor 23 N-terminal peptide; Contains: RecName: Full=Fibroblast growth factor 23 C-terminal peptide; Flags: Precursor
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