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Known Diseases associated with this Protein: |  SHORT STATURE, IDIOPATHIC, AUTOSOMAL
| SHORT STATURE, IDIOPATHIC, AUTOSOMAL (ISSA)
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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_032705 | Disease | p.ALA204GLU | Short stature, idiopathic, autosomal (ISSA) | | Swiss-Prot | VAR_049389 | Polymorphism | p.THR5ILE | N/A | | OMIM | 601898.0001 | Disease | p.ALA204GLU | SHORT STATURE, IDIOPATHIC, AUTOSOMAL | | OMIM | 601898.0003 | Disease | p.ARG237TRP | SHORT STATURE, IDIOPATHIC, AUTOSOMAL | | OMIM | 601898.0002 | Disease | p.TRP2TER | SHORT STATURE, IDIOPATHIC, AUTOSOMAL |
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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2494998
GHSR_HUMAN RecName: Full=Growth hormone secretagogue receptor type 1; Short=GHS-R; AltName: Full=GH-releasing peptide receptor; Short=GHRP; AltName: Full=Ghrelin receptor
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