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Known Diseases associated with this Protein: | MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT
| MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY
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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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Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs2229848 | Polymorphism | p.ALA2583VAL | N/A | dbSNP | rs3816665 | Polymorphism | p.ARG619HIS | N/A | dbSNP | rs35277491 | Polymorphism | p.ARG919LEU | N/A | dbSNP | rs34626728 | Polymorphism | p.ARG96SER | N/A | dbSNP | rs73599293 | Polymorphism | p.ASN2839SER | N/A | dbSNP | rs35879899 | Polymorphism | p.HIS644ASP | N/A | dbSNP | rs35889149 | Polymorphism | p.THR1205ALA | N/A | dbSNP | rs2244008 | Polymorphism | p.THR2632ALA | N/A | dbSNP | rs34551216 | Polymorphism | p.THR3025ALA | N/A | dbSNP | rs73775407 | Polymorphism | p.THR2056LYS | N/A | dbSNP | rs2306942 | Polymorphism | p.VAL1138MET | N/A | OMIM | 156225.0011 | Disease | p.ARG1549TER | MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY | OMIM | 156225.0012 | Disease | p.ARG2383TER | MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY | OMIM | 156225.0008 | Disease | p.ARG2574TER | MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT | OMIM | 156225.0005 | Disease | p.ARG3081TER | MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT | OMIM | 156225.0009 | Disease | p.CYS862ARG | MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY | OMIM | 156225.0013 | Disease | p.CYS967TER | MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT | OMIM | 156225.0010 | Disease | p.CYS527TYR | MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY | OMIM | 156225.0002 | Disease | p.GLN1241TER | MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT | OMIM | 156225.0004 | Disease | p.LEU2560PRO | MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT |
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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