|
|
|---|
 |
|
|  | 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 Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
|---|
| OMIM | 603273.0006 | Disease | p.ARG280CYS | SPLIT-HAND/FOOT MALFORMATION 4 | | OMIM | 603273.0023 | Disease | p.ARG97CYS | SPLIT-HAND/FOOT MALFORMATION 4 | | OMIM | 603273.0002 | Disease | p.ARG204GLN | ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME||3 | | OMIM | 603273.0024 | Disease | p.ARG227GLN | ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME||3||ADULT SYNDROME, INCLUDED | | OMIM | 603273.0014 | Disease | p.ARG298GLN | ADULT SYNDROME | | OMIM | 603273.0008 | Disease | p.ARG304GLN | ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME||3 | | OMIM | 603273.0022 | Disease | p.ARG298GLY | ADULT SYNDROME | | OMIM | 603273.0021 | Disease | p.ARG313GLY | OROFACIAL CLEFT 8 | | OMIM | 603273.0007 | Disease | p.ARG279HIS | ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME||3||RAPP-HODGKIN SYNDROME, INCLUDED | | OMIM | 603273.0028 | Disease | p.ARG227PRO | ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME||3 | | OMIM | 603273.0019 | Disease | p.ARG545PRO | RAPP-HODGKIN SYNDROME | | OMIM | 603273.0001 | Disease | p.ARG204TRP | ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME||3 | | OMIM | 603273.0011 | Disease | p.ASN6HIS | ADULT SYNDROME | | OMIM | 603273.0015 | Disease | p.ASP312GLY | ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME||3 | | OMIM | 603273.0003 | Disease | p.CYS306ARG | ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME||3 | | OMIM | 603273.0010 | Disease | p.CYS522GLY | ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE | | OMIM | 603273.0018 | Disease | p.ILE510THR | ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE||RAPP-HODGKIN SYNDROME, INCLUDED | | OMIM | 603273.0009 | Disease | p.LEU514PHE | ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE | | OMIM | 603273.0005 | Disease | p.LYS194GLU | SPLIT-HAND/FOOT MALFORMATION 4 | | OMIM | 603273.0026 | Disease | p.PRO127LEU | ADULT SYNDROME | | OMIM | 603273.0020 | Disease | p.VAL114MET | ADULT SYNDROME |
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 |
|
169234657
tumor protein 63 isoform 2 [Homo sapiens]
21
0
21
0
0
