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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 | rs1801516 | Polymorphism | p.ASP1853ASN | N/A | dbSNP | rs2234997 | Polymorphism | p.ASP126GLU | N/A | dbSNP | rs2235000 | Polymorphism | p.GLY514ASP | N/A | dbSNP | rs3092856 | Polymorphism | p.HIS1380TYR | N/A | dbSNP | rs1800058 | Polymorphism | p.LEU1420PHE | N/A | dbSNP | rs4988111 | Polymorphism | p.LEU2332PRO | N/A | dbSNP | rs2227924 | Polymorphism | p.LEU546VAL | N/A | dbSNP | rs3092857 | Polymorphism | p.MET1040VAL | N/A | dbSNP | rs3218673 | Polymorphism | p.PRO872SER | N/A | OMIM | 607585.0033 | Disease | p.ALA2067ASP | ATAXIA-TELANGIECTASIA VARIANT | OMIM | 607585.0019 | Disease | p.ARG2443TER | ATAXIA-TELANGIECTASIA | OMIM | 607585.0012 | Disease | p.ARG3047TER | ATAXIA-TELANGIECTASIA WITHOUT IMMUNODEFICIENCY | OMIM | 607585.0008 | Disease | p.ARG35TER | ATAXIA-TELANGIECTASIA | OMIM | 607585.0009 | Disease | p.ASP1682HIS | T-CELL PROLYMPHOCYTIC LEUKEMIA, SOMATIC | OMIM | 607585.0024 | Disease | p.GLN1361TER | MANTLE CELL LYMPHOMA, SOMATIC | OMIM | 607585.0022 | Disease | p.GLU2423GLY | MANTLE CELL LYMPHOMA | OMIM | 607585.0011 | Disease | p.LEU2656PRO | ATAXIA-TELANGIECTASIA WITHOUT IMMUNODEFICIENCY | OMIM | 607585.0010 | Disease | p.MET1040VAL | B-CELL NON-HODGKIN LYMPHOMA, SOMATIC | OMIM | 607585.0006 | Disease | p.PHE2827CYS | ATAXIA-TELANGIECTASIA VARIANT | OMIM | 607585.0032 | Disease | p.SER49CYS | BREAST CANCER, SUSCEPTIBILITY TO | OMIM | 607585.0025 | Disease | p.SER1770TER | T-CELL PROLYMPHOCYTIC LEUKEMIA, SOMATIC | OMIM | 607585.0028 607585.0029 | Disease | p.TYR2677CYS | ATAXIA-TELANGIECTASIA VARIANT | OMIM | 607585.0005 | Disease | p.VAL2424GLY | ATAXIA-TELANGIECTASIA VARIANT||T-CELL PROLYMPHOCYTIC LEUKEMIA, SOMATIC, INCLUDED;;||BREAST CANCER, SUSCEPTIBILITY TO, IN |
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.
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