|
|
|
|
Known Diseases associated with this Protein: | INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS
| THYROID CARCINOMA, FAMILIAL MEDULLARY
|
| | 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. |
---|
Default View:
| |
---|
Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
dbSNP | rs6339 | Polymorphism | p.GLY577VAL | N/A | dbSNP | rs6336 | Polymorphism | p.HIS568TYR | N/A | OMIM | 191315.0004 | Disease | p.ARG738PRO | INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS | OMIM | 191315.0003 | Disease | p.GLY535ARG | INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS | OMIM | 191315.0013 | Disease | p.MET545VAL | INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS | OMIM | 191315.0011 | Disease | p.PRO653LEU | INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS | OMIM | 191315.0012 | Disease | p.TYR329CYS | INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS | OMIM | 191315.0008 | Disease | p.TYR568HIS | THYROID CARCINOMA, FAMILIAL MEDULLARY | OMIM | 191315.0009 | Disease | p.VAL577GLY | 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.
DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD
21250 | Department of Biological Sciences | Phone: 410-455-2258 |
|