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Known Diseases associated with this Protein: |  CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE
| CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE (CDP-GPAPP)
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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_065847 | Disease | p.ASP177ASN | Chondrodysplasia with joint dislocations, GPAPP type (CDP-GPAPP) | | Swiss-Prot | VAR_065848 | Disease | p.THR183PRO | Chondrodysplasia with joint dislocations, GPAPP type (CDP-GPAPP) | | OMIM | 614010.0003 | Disease | p.ARG187TER | CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE | | OMIM | 614010.0001 | Disease | p.ASP177ASN | CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE | | OMIM | 614010.0002 | Disease | p.THR183PRO | CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE |
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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74734687
IMPA3_HUMAN RecName: Full=Inositol monophosphatase 3; Short=IMP 3; Short=IMPase 3; AltName: Full=Golgi 3-prime phosphoadenosine 5-prime phosphate 3-prime phosphatase; Short=Golgi-resident PAP phosphatase; Short=gPAPP; AltName: Full=Inositol monophosphatase domain-containing protein 1; AltName: Full=Inositol-1(or 4)-monophosphatase 3; AltName: Full=Myo-inositol monophosphatase A3
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