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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 | Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_070067 | Disease | p.ARG168CYS | Myopathy, congenital, with fiber-type disproportion (CFTD) | | Swiss-Prot | VAR_070068 | Disease | p.ARG168GLY | Myopathy, congenital, with fiber-type disproportion (CFTD) | | Swiss-Prot | VAR_070071 | Disease | p.ARG245GLY | Myopathy, congenital, with fiber-type disproportion (CFTD) | | Swiss-Prot | VAR_070069 | Disease | p.ARG168HIS | Nemaline myopathy 1 (NEM1) | | Swiss-Prot | VAR_070066 | Disease | p.LEU100MET | Myopathy, congenital, with fiber-type disproportion (CFTD) | | Swiss-Prot | VAR_070070 | Disease | p.LYS169GLU | Myopathy, congenital, with fiber-type disproportion (CFTD) | | Swiss-Prot | VAR_013460 | Disease | p.MET9ARG | Nemaline myopathy 1 (NEM1) | | OMIM | 191030.0009 | Disease | p.ARG168CYS | MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION||CAP MYOPATHY 1, INCLUDED | | OMIM | 191030.0008 | Disease | p.ARG168GLY | MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION | | OMIM | 191030.0005 | Disease | p.ARG168HIS | NEMALINE MYOPATHY 1||MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION, INCLUDED;;||CAP MYOPATHY 1, INCLUDED | | OMIM | 191030.0004 | Disease | p.GLN32TER | NEMALINE MYOPATHY 1 | | OMIM | 191030.0007 | Disease | p.LEU100MET | MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION | | OMIM | 191030.0001 | Disease | p.MET9ARG | NEMALINE MYOPATHY 1 | | OMIM | 191030.0002 | Disease | p.TER286SER | NEMALINE MYOPATHY 1 |
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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519668659
TPM3_HUMAN RecName: Full=Tropomyosin alpha-3 chain; AltName: Full=Gamma-tropomyosin; AltName: Full=Tropomyosin-3; AltName: Full=Tropomyosin-5; Short=hTM5
14
0
7
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