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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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COG2319 | COG2319 | 0.00038 | 407 | 919 |
Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_069195 | Disease | p.ALA435THR | Hypogonadotropic hypogonadism 14 with or without anosmia (HH14) | Swiss-Prot | VAR_069196 | Disease | p.ARG448GLN | Hypogonadotropic hypogonadism 14 with or without anosmia (HH14) | Swiss-Prot | VAR_069194 | Disease | p.ARG395TRP | Hypogonadotropic hypogonadism 14 with or without anosmia (HH14) | Swiss-Prot | VAR_069197 | Disease | p.HIS690GLN | Hypogonadotropic hypogonadism 14 with or without anosmia (HH14) | Swiss-Prot | VAR_069198 | Polymorphism | p.LYS978GLN | N/A | Swiss-Prot | VAR_069199 | Disease | p.PHE1150LEU | Hypogonadotropic hypogonadism 14 with or without anosmia (HH14) | OMIM | 606417.0002 | Disease | p.ALA435THR | HYPOGONADOTROPIC HYPOGONADISM 14 WITHOUT ANOSMIA | OMIM | 606417.0003 | Disease | p.HIS690GLN | HYPOGONADOTROPIC HYPOGONADISM 14 WITH ANOSMIA | OMIM | 606417.0001 | Disease | p.PHE1150LEU | HYPOGONADOTROPIC HYPOGONADISM 14 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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