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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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| dbSNP | rs1466685 | Polymorphism | p.GLN184ARG | N/A | | OMIM | 615320.0004 | Disease | p.ARG185CYS | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),||TYPE B, 14||MUSCULAR DYSTROPHY-DYSTROGLYCAN | | OMIM | 615320.0006 | Disease | p.ARG287GLN | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),||TYPE B, 14 | | OMIM | 615320.0002 | Disease | p.ARG74TER | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 14 | | OMIM | 615320.0001 | Disease | p.ASP334ASN | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 14||MUSCULAR DYSTROPHY-DYSTROG | | OMIM | 615320.0007 | Disease | p.ASP27HIS | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 | | OMIM | 615320.0005 | Disease | p.PRO32LEU | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),||TYPE B, 14 | | OMIM | 615320.0003 | Disease | p.PRO22SER | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 | | OMIM | 615320.0008 | Disease | p.VAL330ILE | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 |
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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11761619
mannose-1-phosphate guanyltransferase beta isoform 1 [Homo sapiens]
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