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Known Diseases associated with this Protein: | NOONAN SYNDROME 8
| NOONAN SYNDROME 8 (NS8)
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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_070150 | Disease | p.ALA57GLY | Noonan syndrome 8 (NS8) | Swiss-Prot | VAR_070151 | Disease | p.GLU81GLY | Noonan syndrome 8 (NS8) | Swiss-Prot | VAR_070157 | Disease | p.GLY95ALA | Noonan syndrome 8 (NS8) | Swiss-Prot | VAR_070156 | Polymorphism | p.MET90ILE | N/A | Swiss-Prot | VAR_070152 | Disease | p.PHE82LEU | Noonan syndrome 8 (NS8) | Swiss-Prot | VAR_070153 | Polymorphism | p.PHE82VAL | N/A | Swiss-Prot | VAR_070149 | Polymorphism | p.SER35THR | N/A | Swiss-Prot | VAR_070154 | Polymorphism | p.THR83PRO | N/A | Swiss-Prot | VAR_070155 | Polymorphism | p.TYR89HIS | N/A | OMIM | 609591.0001 | Disease | p.ALA40GLY | NOONAN SYNDROME 8 | OMIM | 609591.0002 | Disease | p.GLU64GLY | NOONAN SYNDROME 8 | OMIM | 609591.0004 | Disease | p.GLY78ALA | NOONAN SYNDROME 8 | OMIM | 609591.0003 | Disease | p.PHE65LEU | NOONAN SYNDROME 8 |
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.
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21250 | Department of Biological Sciences | Phone: 410-455-2258 |
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