|
|
|---|
 |
|
Known Diseases associated with this Protein: |  AMELOGENESIS IMPERFECTA 1E (AI1E)
| AMELOGENESIS IMPERFECTA, TYPE 1E
|
|  | 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 | Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
|---|
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
|---|
| Swiss-Prot | VAR_037583 | Disease | p.PRO56THR | Amelogenesis imperfecta 1E (AI1E) | | Swiss-Prot | VAR_037582 | Disease | p.THR37ILE | Amelogenesis imperfecta 1E (AI1E) | | Swiss-Prot | VAR_037581 | Disease | p.TRP4SER | Amelogenesis imperfecta 1E (AI1E) | | OMIM | 300391.0006 | Disease | p.GLU177TER | AMELOGENESIS IMPERFECTA, TYPE 1E | | OMIM | 300391.0010 | Disease | p.MET1THR | AMELOGENESIS IMPERFECTA, TYPE 1E | | OMIM | 300391.0007 | Disease | p.PRO56THR | AMELOGENESIS IMPERFECTA, TYPE 1E | | OMIM | 300391.0005 | Disease | p.THR37ILE | AMELOGENESIS IMPERFECTA, TYPE 1E | | OMIM | 300391.0011 | Disease | p.TRP4SER | AMELOGENESIS IMPERFECTA, TYPE 1E |
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 |
|
1168430
AMELX_HUMAN RecName: Full=Amelogenin, X isoform; Flags: Precursor
8
0
5
0
3
