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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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Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs45576533 | Polymorphism | p.ASN1650ILE | N/A | dbSNP | rs45439799 | Polymorphism | p.ASN1822SER | N/A | dbSNP | rs35738915 | Polymorphism | p.GLN507GLU | N/A | dbSNP | rs3088074 | Polymorphism | p.GLN891GLU | N/A | dbSNP | rs45528831 | Polymorphism | p.ILE527VAL | N/A | dbSNP | rs45572441 | Polymorphism | p.MET178ILE | N/A | dbSNP | rs45624939 | Polymorphism | p.PHE809SER | N/A | OMIM | 300032.0015 | Disease | p.ARG1CYS | ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED | OMIM | 300032.0018 | Disease | p.ARG208CYS | ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED | OMIM | 300032.0011 | Disease | p.ARG1234GLN | MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED | OMIM | 300032.0026 | Disease | p.ARG2233GLY | MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED | OMIM | 300032.0016 | Disease | p.ARG1704LYS | ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED | OMIM | 300032.0008 | Disease | p.ARG1490TER | ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED | OMIM | 300032.0022 | Disease | p.ARG37TER | MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED | OMIM | 300032.0004 | Disease | p.ASN964SER | ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED | OMIM | 300032.0005 | Disease | p.ASP1139VAL | ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED | OMIM | 300032.0002 | Disease | p.CYS717ARG | ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED | OMIM | 300032.0025 | Disease | p.CYS182TYR | MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED | OMIM | 300032.0009 | Disease | p.GLU1492TER | ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED | OMIM | 300032.0001 | Disease | p.HIS712ARG | ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED | OMIM | 300032.0024 | Disease | p.ILE2014THR | MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED | OMIM | 300032.0023 | Disease | p.LEU371SER | MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED | OMIM | 300032.0003 | Disease | p.LYS754ASN | ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED | OMIM | 300032.0014 | Disease | p.PRO73ALA | ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED | OMIM | 300032.0012 | Disease | p.PRO814SER | MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED | OMIM | 300032.0021 | Disease | p.SER79TER | ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME, SOMATIC | OMIM | 300032.0019 | Disease | p.THR1583MET | ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED | OMIM | 300032.0007 | Disease | p.TYR1267CYS | ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED | OMIM | 300032.0006 | Disease | p.TYR1188HIS | ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED |
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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