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Known Diseases associated with this Protein: | MEIER-GORLIN SYNDROME 1
| MEIER-GORLIN SYNDROME 1 (MGORS1)
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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_014510 | Polymorphism | p.ALA372VAL | N/A | Swiss-Prot | VAR_065482 | Disease | p.ARG105GLN | Meier-Gorlin syndrome 1 (MGORS1) | Swiss-Prot | VAR_065485 | Disease | p.ARG720GLN | Meier-Gorlin syndrome 1 (MGORS1) | Swiss-Prot | VAR_014511 | Polymorphism | p.ARG441MET | N/A | Swiss-Prot | VAR_014507 | Polymorphism | p.ARG19SER | N/A | Swiss-Prot | VAR_065484 | Disease | p.ARG666TRP | Meier-Gorlin syndrome 1 (MGORS1) | Swiss-Prot | VAR_014514 | Polymorphism | p.CYS469TYR | N/A | dbSNP | rs3087482 | Polymorphism | p.GLN180HIS | N/A | Swiss-Prot | VAR_065483 | Disease | p.GLU127GLY | Meier-Gorlin syndrome 1 (MGORS1) | Swiss-Prot | VAR_014512 | Polymorphism | p.LYS456GLU | N/A | dbSNP | rs34521609 | Polymorphism | p.MET816THR | N/A | Swiss-Prot | VAR_065481 | Disease | p.PHE89SER | Meier-Gorlin syndrome 1 (MGORS1) | dbSNP | rs3087481 | Polymorphism | p.THR466MET | N/A | dbSNP | rs3087477 | Polymorphism | p.VAL190MET | N/A | OMIM | 601902.0003 | Disease | p.ARG105GLN | MEIER-GORLIN SYNDROME 1 | OMIM | 601902.0004 | Disease | p.ARG720GLN | MEIER-GORLIN SYNDROME 1 | OMIM | 601902.0007 | Disease | p.ARG666TRP | 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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