|
|
|---|
 |
|
|  | 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 ↕ |
|---|
| dbSNP | rs34787999 | Polymorphism | p.ARG203GLN | N/A | | dbSNP | rs34006675 | Polymorphism | p.GLY125SER | N/A | | OMIM | 607440.0016 | Disease | p.ALA170GLU | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 4 | | OMIM | 607440.0014 | Disease | p.ALA114THR | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4 | | OMIM | 607440.0009 | Disease | p.ARG307GLN | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4||MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOU | | OMIM | 607440.0018 | Disease | p.ARG307TER | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 4 | | OMIM | 607440.0002 | Disease | p.ARG47TER | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 4 | | OMIM | 607440.0011 | Disease | p.ARG179THR | CARDIOMYOPATHY, DILATED, 1X | | OMIM | 607440.0010 | Disease | p.GLN358PRO | CARDIOMYOPATHY, DILATED, 1X | | OMIM | 607440.0007 | Disease | p.GLN116TER | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 4 | | OMIM | 607440.0012 | Disease | p.GLY125SER | RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE | | OMIM | 607440.0015 | Disease | p.PHE176SER | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4 | | OMIM | 607440.0017 | Disease | p.TYR371CYS | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 4 |
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 |
|
312176389
fukutin isoform b [Homo sapiens]
11
2
11
2
0
