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Known Diseases associated with this Protein: | HYPOGONADOTROPIC HYPOGONADISM 16 WITH ANOSMIA, SUSCEPTIBILITY TO
| HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA (HH16)
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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_036283 | Polymorphism | p.ALA131THR | N/A | Swiss-Prot | VAR_069205 | Disease | p.ARG730GLN | Hypogonadotropic hypogonadism 16 with or without anosmia (HH16) | Swiss-Prot | VAR_069206 | Disease | p.ARG733HIS | Hypogonadotropic hypogonadism 16 with or without anosmia (HH16) | Swiss-Prot | VAR_069200 | Disease | p.ARG66TRP | Hypogonadotropic hypogonadism 16 with or without anosmia (HH16) | Swiss-Prot | VAR_069201 | Disease | p.ASN153SER | Hypogonadotropic hypogonadism 16 with or without anosmia (HH16) | Swiss-Prot | VAR_069202 | Disease | p.ILE400VAL | Hypogonadotropic hypogonadism 16 with or without anosmia (HH16) | Swiss-Prot | VAR_064749 | Polymorphism | p.PRO396SER | N/A | Swiss-Prot | VAR_069204 | Disease | p.THR688ALA | Hypogonadotropic hypogonadism 16 with or without anosmia (HH16) | Swiss-Prot | VAR_069203 | Disease | p.VAL435ILE | Hypogonadotropic hypogonadism 16 with or without anosmia (HH16) | OMIM | 603961.0002 | Disease | p.VAL435ILE | HYPOGONADOTROPIC HYPOGONADISM 16 WITH ANOSMIA, SUSCEPTIBILITY TO |
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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