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Known Diseases associated with this Protein: |  EMERY-DREIFUSS MUSCULAR DYSTROPHY 6
| MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET
| MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE (RBM)
| MYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET
| MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY
| MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (XMPMA)
| SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT
| SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT (SPM)
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|  | 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. |
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 Default View:
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 Domains found on the Protein Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_046001 | Disease | p.CYS153ARG | Myopathy, reducing body, X-linked, early-onset, severe (RBM) | | Swiss-Prot | VAR_046000 | Disease | p.CYS132PHE | Myopathy, reducing body, X-linked, early-onset, severe (RBM) | | Swiss-Prot | VAR_042605 | Disease | p.CYS224TRP | Myopathy, X-linked, with postural muscle atrophy (XMPMA) | | Swiss-Prot | VAR_046002 | Disease | p.CYS153TYR | Myopathy, reducing body, X-linked, early-onset, severe (RBM) | | Swiss-Prot | VAR_045999 | Disease | p.HIS123TYR | Myopathy, reducing body, X-linked, early-onset, severe (RBM) | | Swiss-Prot | VAR_042603 | Disease | p.TRP122SER | Scapuloperoneal myopathy, X-linked dominant (SPM) | | OMIM | 300163.0009 | Disease | p.CYS104ARG | MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET | | OMIM | 300163.0006 | Disease | p.CYS153ARG | MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET | | OMIM | 300163.0011 | Disease | p.CYS209ARG | EMERY-DREIFUSS MUSCULAR DYSTROPHY 6 | | OMIM | 300163.0005 | Disease | p.CYS132PHE | MYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET | | OMIM | 300163.0002 | Disease | p.CYS224TRP | MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY | | OMIM | 300163.0008 | Disease | p.CYS150TYR | MYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET | | OMIM | 300163.0007 | Disease | p.CYS153TYR | MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET | | OMIM | 300163.0016 | Disease | p.HIS123GLN | MYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET | | OMIM | 300163.0015 | Disease | p.HIS123LEU | MYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET | | OMIM | 300163.0004 | Disease | p.HIS123TYR | MYOPATHY, REDUCING BODY, X-LINKED, SEVERE EARLY-ONSET | | OMIM | 300163.0010 | Disease | p.TER281GLU | EMERY-DREIFUSS MUSCULAR DYSTROPHY 6 | | OMIM | 300163.0001 | Disease | p.TRP122SER | SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT | | OMIM | 300163.0013 | Disease | p.VAL280MET | MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY |
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 |
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59800384
FHL1_HUMAN RecName: Full=Four and a half LIM domains protein 1; Short=FHL-1; AltName: Full=Skeletal muscle LIM-protein 1; Short=SLIM; Short=SLIM-1
19
0
13
0
6
