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Known Diseases associated with this Protein: | HYPERTHYROIDISM, FAMILIAL GESTATIONAL
| HYPERTHYROIDISM, NONAUTOIMMUNE
| HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
| THYROID ADENOMA, HYPERFUNCTIONING, SOMATIC
| THYROID ADENOMA, HYPERFUNCTIONING, SOMATIC, INCLUDED
| THYROID CARCINOMA WITH THYROTOXICOSIS
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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 | rs1991517 | Polymorphism | p.GLU727ASP | N/A | dbSNP | rs2234919 | Polymorphism | p.PRO52THR | N/A | OMIM | 603372.0003 | Disease | p.ALA623ILE | THYROID ADENOMA, HYPERFUNCTIONING, SOMATIC | OMIM | 603372.0016 | Disease | p.ALA553THR | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 | OMIM | 603372.0027 | Disease | p.ARG310CYS | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 | OMIM | 603372.0009 | Disease | p.ARG109GLN | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 | OMIM | 603372.0012 | Disease | p.ASP410ASN | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 | OMIM | 603372.0002 | Disease | p.ASP619GLY | THYROID ADENOMA, HYPERFUNCTIONING, SOMATIC | OMIM | 603372.0008 | Disease | p.ASP633HIS | THYROID CARCINOMA WITH THYROTOXICOSIS | OMIM | 603372.0029 | Disease | p.CYS600ARG | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 | OMIM | 603372.0013 | Disease | p.CYS41SER | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 | OMIM | 603372.0015 | Disease | p.CYS390TRP | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 | OMIM | 603372.0020 | Disease | p.CYS672TYR | HYPERTHYROIDISM, NONAUTOIMMUNE | OMIM | 603372.0011 | Disease | p.GLN324TER | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 | OMIM | 603372.0028 | Disease | p.GLY431SER | HYPERTHYROIDISM, NONAUTOIMMUNE | OMIM | 603372.0005 | Disease | p.ILE167ASN | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 | OMIM | 603372.0022 | Disease | p.LEU629PHE | HYPERTHYROIDISM, NONAUTOIMMUNE||THYROID ADENOMA, HYPERFUNCTIONING, SOMATIC, INCLUDED | OMIM | 603372.0030 | Disease | p.LEU467PRO | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 | OMIM | 603372.0024 | Disease | p.LYS183ARG | HYPERTHYROIDISM, FAMILIAL GESTATIONAL | OMIM | 603372.0007 | Disease | p.MET453THR | HYPERTHYROIDISM, NONAUTOIMMUNE | OMIM | 603372.0014 | Disease | p.PHE525LEU | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 | OMIM | 603372.0004 | Disease | p.PHE631LEU | HYPERTHYROIDISM, NONAUTOIMMUNE||THYROID ADENOMA, HYPERFUNCTIONING, SOMATIC, INCLUDED | OMIM | 603372.0006 | Disease | p.PRO162ALA | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 | OMIM | 603372.0025 | Disease | p.PRO639SER | HYPERTHYROIDISM, NONAUTOIMMUNE | OMIM | 603372.0023 | Disease | p.SER281ASN | HYPERTHYROIDISM, NONAUTOIMMUNE | OMIM | 603372.0021 | Disease | p.SER505ASN | HYPERTHYROIDISM, NONAUTOIMMUNE | OMIM | 603372.0017 | Disease | p.SER281ILE | THYROID ADENOMA, HYPERFUNCTIONING, SOMATIC | OMIM | 603372.0026 | Disease | p.THR477ILE | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 | OMIM | 603372.0010 | Disease | p.TRP546TER | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 | OMIM | 603372.0019 | Disease | p.VAL509ALA | HYPERTHYROIDISM, NONAUTOIMMUNE |
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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