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Known Diseases associated with this Protein: | MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II
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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 Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs35044802 | Polymorphism | p.ALA1194THR | N/A | dbSNP | rs2839256 | Polymorphism | p.ALA2549THR | N/A | dbSNP | rs35147998 | Polymorphism | p.ALA2903THR | N/A | dbSNP | rs7279204 | Polymorphism | p.ARG1163CYS | N/A | dbSNP | rs34813667 | Polymorphism | p.ARG1960GLN | N/A | Swiss-Prot | VAR_069421 | Polymorphism | p.ARG2424GLN | N/A | dbSNP | rs8131693 | Polymorphism | p.ARG2625GLN | N/A | dbSNP | rs34268261 | Polymorphism | p.ARG1953HIS | N/A | dbSNP | rs743346 | Polymorphism | p.ARG2753HIS | N/A | dbSNP | rs2073380 | Polymorphism | p.ARG3245SER | N/A | dbSNP | rs35940413 | Polymorphism | p.ASN1841SER | N/A | dbSNP | rs7277175 | Polymorphism | p.GLN2361ARG | N/A | dbSNP | rs2073376 | Polymorphism | p.GLN2792ARG | N/A | dbSNP | rs2070426 | Polymorphism | p.GLN2659HIS | N/A | Swiss-Prot | VAR_069420 | Polymorphism | p.GLY1452ARG | N/A | dbSNP | rs2839223 | Polymorphism | p.GLY704GLU | N/A | dbSNP | rs34500739 | Polymorphism | p.HIS237GLN | N/A | dbSNP | rs35978208 | Polymorphism | p.HIS2125PRO | N/A | dbSNP | rs6518291 | Polymorphism | p.ILE1639VAL | N/A | dbSNP | rs61735822 | Polymorphism | p.ILE174VAL | N/A | dbSNP | rs2839245 | Polymorphism | p.LEU2097PRO | N/A | Swiss-Prot | VAR_056971 | Polymorphism | p.LEU2975PRO | N/A | dbSNP | rs1044998 | Polymorphism | p.MET2188ARG | N/A | Swiss-Prot | VAR_056963 | Polymorphism | p.PRO2329ARG | N/A | dbSNP | rs2070425 | Polymorphism | p.PRO2274LEU | N/A | dbSNP | rs61735814 | Polymorphism | p.PRO2377LEU | N/A | dbSNP | rs4818842 | Polymorphism | p.SER3091GLY | N/A | dbSNP | rs34151633 | Polymorphism | p.SER2191PRO | N/A | dbSNP | rs9981448 | Polymorphism | p.THR2206ALA | N/A | dbSNP | rs2839227 | Polymorphism | p.THR879ALA | N/A | dbSNP | rs2249060 | Polymorphism | p.THR539ILE | N/A | dbSNP | rs60078675 | Polymorphism | p.THR3005MET | N/A | dbSNP | rs35346764 | Polymorphism | p.TRP2239ARG | N/A | dbSNP | rs6518289 | Polymorphism | p.VAL1038ALA | N/A | OMIM | 605925.0004 | Disease | p.ARG1923TER | MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II | OMIM | 605925.0008 | Disease | p.ARG2918TER | MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II | OMIM | 605925.0009 | Disease | p.GLN1280HIS | MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II | OMIM | 605925.0006 | Disease | p.GLU1037TER | MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II | OMIM | 605925.0011 | Disease | p.GLU1154TER | MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II | OMIM | 605925.0001 | Disease | p.GLU220TER | MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II |
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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