|
|
|
|
| | 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 ↕ |
---|
OMIM | 190181.0006 | Disease | p.ARG410GLN | LOEYS-DIETZ SYNDROME, TYPE 2A | OMIM | 190181.0004 | Disease | p.ARG410PRO | LOEYS-DIETZ SYNDROME, TYPE 1A||LOEYS-DIETZ SYNDROME, TYPE 2A, INCLUDED | OMIM | 190181.0012 | Disease | p.ARG337TER | MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO | OMIM | 190181.0007 | Disease | p.ARG410TRP | LOEYS-DIETZ SYNDROME, TYPE 2A | OMIM | 190181.0009 | Disease | p.ASN45SER | MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO | OMIM | 190181.0002 | Disease | p.ASP323GLY | LOEYS-DIETZ SYNDROME, TYPE 1A | OMIM | 190181.0010 | Disease | p.GLY52ARG | MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO | OMIM | 190181.0001 | Disease | p.MET241ARG | LOEYS-DIETZ SYNDROME, TYPE 1A | OMIM | 190181.0005 | Disease | p.SER164LEU | LOEYS-DIETZ SYNDROME, TYPE 1A | OMIM | 190181.0003 | Disease | p.THR123ILE | LOEYS-DIETZ SYNDROME, TYPE 1A |
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 |
|