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Known Diseases associated with this Protein: | NEURAL TUBE DEFECTS (NTD)
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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_067213 | Disease | p.ALA773VAL | Neural tube defects (NTD) | Swiss-Prot | VAR_067215 | Disease | p.ARG2438GLN | Neural tube defects (NTD) | dbSNP | rs34267201 | Polymorphism | p.ARG2219HIS | N/A | Swiss-Prot | VAR_067214 | Polymorphism | p.ARG2312PRO | N/A | Swiss-Prot | VAR_067216 | Polymorphism | p.ASN2739THR | N/A | dbSNP | rs4823561 | Polymorphism | p.CYS1126ARG | N/A | dbSNP | rs12165943 | Polymorphism | p.CYS2797SER | N/A | dbSNP | rs9615351 | Polymorphism | p.GLU2903GLN | N/A | dbSNP | rs35364389 | Polymorphism | p.GLY2948SER | N/A | dbSNP | rs4044210 | Polymorphism | p.ILE2107VAL | N/A | Swiss-Prot | VAR_049464 | Polymorphism | p.ILE587VAL | N/A | dbSNP | rs6008795 | Polymorphism | p.LEU1994PRO | N/A | dbSNP | rs6008794 | Polymorphism | p.LEU1995PRO | N/A | dbSNP | rs11575871 | Polymorphism | p.LEU556VAL | N/A | dbSNP | rs61741871 | Disease | p.PRO2983ALA | Neural tube defects (NTD) | dbSNP | rs6008777 | Disease | p.SER2964LEU | Neural tube defects (NTD) | dbSNP | rs4823850 | Polymorphism | p.SER664TRP | N/A | dbSNP | rs6007897 | Polymorphism | p.THR2268ALA | N/A | dbSNP | rs12169391 | Polymorphism | p.THR2045MET | N/A | dbSNP | rs34467708 | Polymorphism | p.TYR1894HIS | N/A | dbSNP | rs6008842 | Polymorphism | p.VAL1242ILE | N/A | dbSNP | rs75983687 | Polymorphism | p.VAL2703MET | N/A |
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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