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Known Diseases associated with this Protein: | VAN MALDERGEM 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 | rs2659875 | Polymorphism | p.ARG2359CYS | N/A | dbSNP | rs35599968 | Polymorphism | p.ARG2827PRO | N/A | dbSNP | rs2659874 | Polymorphism | p.ARG2091THR | N/A | Swiss-Prot | VAR_036110 | Polymorphism | p.ARG1583TRP | N/A | Swiss-Prot | VAR_061074 | Polymorphism | p.LEU2172GLN | N/A | dbSNP | rs7109028 | Polymorphism | p.PRO1961LEU | N/A | dbSNP | rs4758443 | Polymorphism | p.THR1949MET | N/A | dbSNP | rs7924553 | Polymorphism | p.VAL2331ILE | N/A | OMIM | 603057.0003 | Disease | p.ASN2370ILE | VAN MALDERGEM SYNDROME 1 | OMIM | 603057.0001 | Disease | p.GLY835TER | VAN MALDERGEM 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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