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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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| dbSNP | rs12115566 | Polymorphism | p.ALA619VAL | N/A | | dbSNP | rs11243406 | Polymorphism | p.ASP411GLU | N/A | | dbSNP | rs4740164 | Polymorphism | p.VAL305ILE | N/A | | OMIM | 607423.0005 | Disease | p.ALA200PRO | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1 | | OMIM | 607423.0013 | Disease | p.ALA647THR | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),||TYPE B, 1 | | OMIM | 607423.0008 | Disease | p.ARG492TER | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),||TYPE B, 1 | | OMIM | 607423.0011 | Disease | p.ARG519TER | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),||TYPE B, 1 | | OMIM | 607423.0019 | Disease | p.ASN144ASP | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1 | | OMIM | 607423.0009 607423.0012 | Disease | p.GLN568HIS | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),||TYPE B, 1 | | OMIM | 607423.0002 | Disease | p.GLN281TER | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH EYE AND BRAIN||ANOMALIES), TYPE A, 1 | | OMIM | 607423.0006 607423.0010 | Disease | p.GLY65ARG | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),||TYPE B, 1 | | OMIM | 607423.0001 | Disease | p.GLY76ARG | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH EYE AND BRAIN||ANOMALIES), TYPE A, 1 | | OMIM | 607423.0020 | Disease | p.THR392MET | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1 | | OMIM | 607423.0007 | Disease | p.TRP560CYS | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),||TYPE B, 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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116517317
protein O-mannosyl-transferase 1 isoform b [Homo sapiens]
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