|
|
|---|
 |
|
Known Diseases associated with this Protein: |  ANOMALIES), TYPE A, 7
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE
|
|  | 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 ↕ |
|---|
| dbSNP | rs61734789 | Polymorphism | p.ALA136VAL | N/A | | OMIM | 614631.0005 | Disease | p.ALA1ASP | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 7 | | OMIM | 614631.0007 | Disease | p.ALA122PRO | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 7 | | OMIM | 614631.0008 | Disease | p.ARG218TER | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 7 | | OMIM | 614631.0013 | Disease | p.ARG86TER | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 7 | | OMIM | 614631.0011 | Disease | p.ASP156ASN | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 7 | | OMIM | 614631.0006 | Disease | p.LYS228TER | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 7 | | OMIM | 614631.0009 | Disease | p.MET1ARG | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 7 | | OMIM | 614631.0012 | Disease | p.THR188ILE | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 7 |
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 |
|
157671913
isoprenoid synthase domain-containing protein isoform b [Homo sapiens]
8
1
8
1
0
