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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_069962 | Disease | p.ALA194ASP | Hypogonadotropic hypogonadism 8 with or without anosmia (HH8) | | Swiss-Prot | VAR_069961 | Disease | p.ALA189THR | Hypogonadotropic hypogonadism 8 with or without anosmia (HH8) | | Swiss-Prot | VAR_021394 | Disease | p.ARG297LEU | Hypogonadotropic hypogonadism 8 with or without anosmia (HH8) | | Swiss-Prot | VAR_043907 | Disease | p.ARG386PRO | Precocious puberty, central 1 (CPPB1) | | Swiss-Prot | VAR_021393 | Disease | p.CYS223ARG | Hypogonadotropic hypogonadism 8 with or without anosmia (HH8) | | Swiss-Prot | VAR_021395 | Polymorphism | p.LEU364HIS | N/A | | Swiss-Prot | VAR_043906 | Disease | p.LEU102PRO | Hypogonadotropic hypogonadism 8 with or without anosmia (HH8) | | Swiss-Prot | VAR_021392 | Disease | p.LEU148SER | Hypogonadotropic hypogonadism 8 with or without anosmia (HH8) | | OMIM | 604161.0007 | Disease | p.ALA194ASP | HYPOGONADOTROPIC HYPOGONADISM 8 WITH ANOSMIA, SUSCEPTIBILITY TO | | OMIM | 604161.0006 | Disease | p.ARG386PRO | PRECOCIOUS PUBERTY, CENTRAL, 1 | | OMIM | 604161.0002 | Disease | p.ARG331TER | HYPOGONADOTROPIC HYPOGONADISM 8 WITHOUT ANOSMIA | | OMIM | 604161.0005 | Disease | p.LEU102PRO | HYPOGONADOTROPIC HYPOGONADISM 8 WITHOUT ANOSMIA | | OMIM | 604161.0001 | Disease | p.LEU148SER | HYPOGONADOTROPIC HYPOGONADISM 8 WITHOUT ANOSMIA | | OMIM | 604161.0003 | Disease | p.TER399ARG | HYPOGONADOTROPIC HYPOGONADISM 8 WITHOUT ANOSMIA |
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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125987836
KISSR_HUMAN RecName: Full=KiSS-1 receptor; Short=KiSS-1R; AltName: Full=G-protein coupled receptor 54; AltName: Full=G-protein coupled receptor OT7T175; Short=hOT7T175; AltName: Full=Hypogonadotropin-1; AltName: Full=Kisspeptins receptor; AltName: Full=Metastin receptor
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