Known Diseases associated with this Protein: |  46,XY GONADAL DYSGENESIS, COMPLETE, DHH-RELATED
| COMPLETE PURE GONADAL DYSGENESIS 46,XY TYPE (GDXYM)
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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_054873 | Disease | p.LEU162PRO | Complete pure gonadal dysgenesis 46,XY type (GDXYM) | | OMIM | 605423.0002 | Disease | p.LEU162PRO | 46,XY GONADAL DYSGENESIS, COMPLETE, DHH-RELATED |
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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6166118
DHH_HUMAN RecName: Full=Desert hedgehog protein; Short=DHH; AltName: Full=HHG-3; Contains: RecName: Full=Desert hedgehog protein N-product; Contains: RecName: Full=Desert hedgehog protein C-product; Flags: Precursor
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