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Known Diseases associated with this Protein: | ADAMS-OLIVER SYNDROME 3
| ADAMS-OLIVER SYNDROME 3 (AOS3)
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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_028998 | Polymorphism | p.ALA456VAL | N/A | Swiss-Prot | VAR_028996 | Polymorphism | p.ARG419GLN | N/A | Swiss-Prot | VAR_028995 | Polymorphism | p.ASP334HIS | N/A | Swiss-Prot | VAR_068929 | Disease | p.GLU63GLY | Adams-Oliver syndrome 3 (AOS3) | Swiss-Prot | VAR_057244 | Polymorphism | p.ILE408VAL | N/A | Swiss-Prot | VAR_068930 | Disease | p.LYS169GLU | Adams-Oliver syndrome 3 (AOS3) | Swiss-Prot | VAR_028994 | Polymorphism | p.LYS291GLU | N/A | Swiss-Prot | VAR_057243 | Polymorphism | p.MET296LYS | N/A | Swiss-Prot | VAR_028997 | Polymorphism | p.PRO425SER | N/A | dbSNP | rs75014045 | Polymorphism | p.THR197ARG | N/A | OMIM | 147183.0001 | Disease | p.GLU63GLY | ADAMS-OLIVER SYNDROME 3 | OMIM | 147183.0002 | Disease | p.LYS169GLU | ADAMS-OLIVER SYNDROME 3 |
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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