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Known Diseases associated with this Protein: | MEIER-GORLIN SYNDROME 1
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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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dbSNP | rs3087482 | Polymorphism | p.GLN180HIS | N/A | dbSNP | rs34521609 | Polymorphism | p.MET811THR | N/A | dbSNP | rs3087481 | Polymorphism | p.THR461MET | N/A | dbSNP | rs3087477 | Polymorphism | p.VAL190MET | N/A | OMIM | 601902.0003 | Disease | p.ARG105GLN | MEIER-GORLIN SYNDROME 1 | OMIM | 601902.0004 | Disease | p.ARG715GLN | MEIER-GORLIN SYNDROME 1 | OMIM | 601902.0007 | Disease | p.ARG661TRP | MEIER-GORLIN SYNDROME 1 | OMIM | 601902.0001 | Disease | p.GLU127GLY | MEIER-GORLIN SYNDROME 1 | OMIM | 601902.0002 | Disease | p.PHE89SER | MEIER-GORLIN SYNDROME 1 |
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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