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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_057966 | Disease | p.ARG116GLY | Hypogonadotropic hypogonadism 6 with or without anosmia (HH6) | | Swiss-Prot | VAR_057962 | Disease | p.HIS14ASN | Hypogonadotropic hypogonadism 6 with or without anosmia (HH6) | | Swiss-Prot | VAR_057965 | Disease | p.LYS89GLU | Hypogonadotropic hypogonadism 6 with or without anosmia (HH6) | | Swiss-Prot | VAR_057964 | Disease | p.PHE40LEU | Hypogonadotropic hypogonadism 6 with or without anosmia (HH6) | | Swiss-Prot | VAR_057963 | Disease | p.PRO26LEU | Hypogonadotropic hypogonadism 6 with or without anosmia (HH6) | | Swiss-Prot | VAR_057967 | Disease | p.THR218MET | Hypogonadotropic hypogonadism 6 with or without anosmia (HH6) | | OMIM | 600483.0005 | Disease | p.ARG116GLY | HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA | | OMIM | 600483.0001 | Disease | p.HIS14ASN | HYPOGONADOTROPIC HYPOGONADISM 6 WITHOUT ANOSMIA | | OMIM | 600483.0004 | Disease | p.LYS89GLU | HYPOGONADOTROPIC HYPOGONADISM 6 WITHOUT ANOSMIA | | OMIM | 600483.0003 | Disease | p.PHE40LEU | HYPOGONADOTROPIC HYPOGONADISM 6 WITHOUT ANOSMIA | | OMIM | 600483.0002 | Disease | p.PRO26LEU | HYPOGONADOTROPIC HYPOGONADISM 6 WITH ANOSMIA | | OMIM | 600483.0006 | Disease | p.THR218MET | RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE |
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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1706791
FGF8_HUMAN RecName: Full=Fibroblast growth factor 8; Short=FGF-8; AltName: Full=Androgen-induced growth factor; Short=AIGF; AltName: Full=Heparin-binding growth factor 8; Short=HBGF-8; Flags: Precursor
12
0
6
0
6
