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Known Diseases associated with this Protein: | CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL
| CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE
| HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1
| MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA
| MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE
| MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB
| PHEOCHROMOCYTOMA, INCLUDED
| PHEOCHROMOCYTOMA, SOMATIC, IN
| RENAL AGENESIS
| THYROID CARCINOMA, FAMILIAL MEDULLARY
| THYROID CARCINOMA, FAMILIAL MEDULLARY, INCLUDED
| THYROID CARCINOMA, FAMILIAL MEDULLARY, INCLUDED;;
| THYROID CARCINOMA, SPORADIC MEDULLARY, INCLUDED;;
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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 | rs1799939 | Polymorphism | p.GLY691SER | N/A | OMIM | 164761.0038 | Disease | p.ALA45ALA | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | OMIM | 164761.0040 | Disease | p.ALA640GLY | MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA | OMIM | 164761.0036 | Disease | p.ARG982CYS | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | OMIM | 164761.0028 | Disease | p.ARG313GLN | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | OMIM | 164761.0022 | Disease | p.ARG330GLN | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | OMIM | 164761.0016 | Disease | p.ARG897GLN | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | OMIM | 164761.0017 | Disease | p.ARG972GLY | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | OMIM | 164761.0045 | Disease | p.ARG114HIS | CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL | OMIM | 164761.0035 | Disease | p.ARG231HIS | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | OMIM | 164761.0051 | Disease | p.ARG912PRO | THYROID CARCINOMA, FAMILIAL MEDULLARY | OMIM | 164761.0021 | Disease | p.ARG180TER | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | OMIM | 164761.0042 | Disease | p.CYS609ARG | THYROID CARCINOMA, FAMILIAL MEDULLARY | OMIM | 164761.0025 | Disease | p.CYS618ARG | THYROID CARCINOMA, FAMILIAL MEDULLARY | OMIM | 164761.0009 | Disease | p.CYS620ARG | MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA | OMIM | 164761.0011 | Disease | p.CYS634ARG | MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA||PHEOCHROMOCYTOMA, INCLUDED | OMIM | 164761.0001 | Disease | p.CYS618GLY | MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA | OMIM | 164761.0003 | Disease | p.CYS634GLY | MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA||PHEOCHROMOCYTOMA, INCLUDED | OMIM | 164761.0024 | Disease | p.CYS620PHE | MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA | OMIM | 164761.0006 | Disease | p.CYS634PHE | MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA||THYROID CARCINOMA, FAMILIAL MEDULLARY, INCLUDED;;||PHEOCHROMOCYTOMA, INCLUDED | OMIM | 164761.0008 | Disease | p.CYS618SER | MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA||THYROID CARCINOMA, FAMILIAL MEDULLARY, INCLUDED | OMIM | 164761.0041 | Disease | p.CYS620SER | THYROID CARCINOMA, FAMILIAL MEDULLARY | OMIM | 164761.0005 | Disease | p.CYS634SER | MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA||PHEOCHROMOCYTOMA, INCLUDED | OMIM | 164761.0007 | Disease | p.CYS611TRP | MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA | OMIM | 164761.0032 | Disease | p.CYS620TRP | MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE | OMIM | 164761.0012 | Disease | p.CYS634TRP | MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA||PHEOCHROMOCYTOMA, INCLUDED | OMIM | 164761.0029 | Disease | p.CYS609TYR | MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE | OMIM | 164761.0010 | Disease | p.CYS620TYR | MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA | OMIM | 164761.0004 | Disease | p.CYS634TYR | MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA||PHEOCHROMOCYTOMA, INCLUDED | OMIM | 164761.0027 | Disease | p.GLU768ASP | THYROID CARCINOMA, FAMILIAL MEDULLARY | OMIM | 164761.0020 | Disease | p.GLU136TER | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | OMIM | 164761.0048 | Disease | p.GLY533CYS | THYROID CARCINOMA, FAMILIAL MEDULLARY | OMIM | 164761.0033 | Disease | p.LEU790PHE | MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA||THYROID CARCINOMA, FAMILIAL MEDULLARY, INCLUDED | OMIM | 164761.0013 | Disease | p.MET918THR | MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB||THYROID CARCINOMA, SPORADIC MEDULLARY, INCLUDED;;||PHEOCHROMOCYTOMA, SOMATIC, IN | OMIM | 164761.0023 | Disease | p.PHE393LEU | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | OMIM | 164761.0046 | Disease | p.PRO1039LEU | CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH HIRSCHSPRUNG DISEASE | OMIM | 164761.0019 | Disease | p.PRO64LEU | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | OMIM | 164761.0054 | Disease | p.PRO198THR | RENAL AGENESIS | OMIM | 164761.0049 | Disease | p.SER891ALA | MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA||THYROID CARCINOMA, FAMILIAL MEDULLARY, INCLUDED | OMIM | 164761.0018 | Disease | p.SER32LEU | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | OMIM | 164761.0015 | Disease | p.SER765PRO | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | OMIM | 164761.0034 | Disease | p.TYR791PHE | THYROID CARCINOMA, FAMILIAL MEDULLARY||PHEOCHROMOCYTOMA, INCLUDED | OMIM | 164761.0047 | Disease | p.VAL648ILE | MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA | OMIM | 164761.0053 | Disease | p.VAL778ILE | RENAL AGENESIS | OMIM | 164761.0044 | Disease | p.VAL804LEU | THYROID CARCINOMA, FAMILIAL MEDULLARY |
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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