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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.ASN1688ILE | N/A | dbSNP | rs45439799 | Polymorphism | p.ASN1860SER | N/A | dbSNP | rs35738915 | Polymorphism | p.GLN545GLU | N/A | dbSNP | rs3088074 | Polymorphism | p.GLN929GLU | N/A | dbSNP | rs45528831 | Polymorphism | p.ILE565VAL | N/A | dbSNP | rs45572441 | Polymorphism | p.MET216ILE | N/A | dbSNP | rs45624939 | Polymorphism | p.PHE847SER | N/A | OMIM | 300032.0015 | Disease | p.ARG129CYS | ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED | OMIM | 300032.0018 | Disease | p.ARG246CYS | ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED | OMIM | 300032.0011 | Disease | p.ARG1272GLN | MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED | OMIM | 300032.0026 | Disease | p.ARG2271GLY | MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED | OMIM | 300032.0016 | Disease | p.ARG1742LYS | ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED | OMIM | 300032.0008 | Disease | p.ARG1528TER | 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.ASN1002SER | ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED | OMIM | 300032.0005 | Disease | p.ASP1177VAL | ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED | OMIM | 300032.0002 | Disease | p.CYS755ARG | ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED | OMIM | 300032.0025 | Disease | p.CYS220TYR | MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED | OMIM | 300032.0009 | Disease | p.GLU1530TER | ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED | OMIM | 300032.0001 | Disease | p.HIS750ARG | ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED | OMIM | 300032.0024 | Disease | p.ILE2052THR | MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED | OMIM | 300032.0023 | Disease | p.LEU409SER | MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED | OMIM | 300032.0003 | Disease | p.LYS792ASN | 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.PRO852SER | MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED | OMIM | 300032.0021 | Disease | p.SER79TER | ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME, SOMATIC | OMIM | 300032.0019 | Disease | p.THR1621MET | ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED | OMIM | 300032.0007 | Disease | p.TYR1305CYS | ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED | OMIM | 300032.0006 | Disease | p.TYR1226HIS | 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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