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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 Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_068103 | Disease | p.ALA216ASP | Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7 (MDDGA7) | | Swiss-Prot | VAR_068101 | Disease | p.ALA122PRO | Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7 (MDDGA7) | | dbSNP | rs61734789 | Polymorphism | p.ALA136VAL | N/A | | Swiss-Prot | VAR_068102 | Disease | p.ARG126HIS | Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7 (MDDGA7) | | Swiss-Prot | VAR_069741 | Disease | p.ASP156ASN | Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7 (MDDGA7) | | Swiss-Prot | VAR_069742 | Disease | p.MET213ARG | Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7 (MDDGA7) | | Swiss-Prot | VAR_069744 | Disease | p.THR238ILE | Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7 (MDDGA7) | | Swiss-Prot | VAR_069743 | Disease | p.TYR226HIS | Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A7 (MDDGA7) | | OMIM | 614631.0005 | Disease | p.ALA216ASP | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 7 | | OMIM | 614631.0007 | Disease | p.ALA122PRO | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 7 | | OMIM | 614631.0008 | Disease | p.ARG268TER | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 7 | | OMIM | 614631.0013 | Disease | p.ARG86TER | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 7 | | OMIM | 614631.0011 | Disease | p.ASP156ASN | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 7 | | OMIM | 614631.0006 | Disease | p.LYS278TER | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 7 | | OMIM | 614631.0009 | Disease | p.MET213ARG | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 7 | | OMIM | 614631.0012 | Disease | p.THR238ILE | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 7 |
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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205831245
ISPD_HUMAN RecName: Full=Isoprenoid synthase domain-containing protein; AltName: Full=2-C-methyl-D-erythritol 4-phosphate cytidylyltransferase-like protein
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