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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_065051 | Disease | p.ALA170GLU | Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4 (MDDGA4) | Swiss-Prot | VAR_065050 | Disease | p.ALA114THR | Muscular dystrophy-dystroglycanopathy limb-girdle C4 (MDDGC4) | Swiss-Prot | VAR_061296 | Polymorphism | p.ARG56CYS | N/A | dbSNP | rs34787999 | Polymorphism | p.ARG203GLN | N/A | Swiss-Prot | VAR_039288 | Disease | p.ARG307GLN | Muscular dystrophy-dystroglycanopathy limb-girdle C4 (MDDGC4) | Swiss-Prot | VAR_065053 | Disease | p.ARG246GLY | Muscular dystrophy-dystroglycanopathy congenital without mental retardation B4 (MDDGB4) | Swiss-Prot | VAR_039287 | Disease | p.ARG179THR | Cardiomyopathy, dilated 1X (CMD1X) | Swiss-Prot | VAR_018279 | Polymorphism | p.ASN446ASP | N/A | Swiss-Prot | VAR_036335 | Polymorphism | p.ASP225ASN | N/A | Swiss-Prot | VAR_036334 | Polymorphism | p.ASP225GLU | N/A | Swiss-Prot | VAR_018278 | Disease | p.CYS250GLY | Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4 (MDDGA4) | Swiss-Prot | VAR_039289 | Disease | p.GLN358PRO | Cardiomyopathy, dilated 1X (CMD1X) | dbSNP | rs34006675 | Polymorphism | p.GLY125SER | N/A | Swiss-Prot | VAR_065052 | Disease | p.PHE176SER | Muscular dystrophy-dystroglycanopathy limb-girdle C4 (MDDGC4) | Swiss-Prot | VAR_065054 | Disease | p.TYR371CYS | Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4 (MDDGA4) | OMIM | 607440.0016 | Disease | p.ALA170GLU | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 4 | OMIM | 607440.0014 | Disease | p.ALA114THR | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4 | OMIM | 607440.0009 | Disease | p.ARG307GLN | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4||MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOU | OMIM | 607440.0018 | Disease | p.ARG307TER | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 4 | OMIM | 607440.0002 | Disease | p.ARG47TER | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 4 | OMIM | 607440.0011 | Disease | p.ARG179THR | CARDIOMYOPATHY, DILATED, 1X | OMIM | 607440.0010 | Disease | p.GLN358PRO | CARDIOMYOPATHY, DILATED, 1X | OMIM | 607440.0007 | Disease | p.GLN116TER | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 4 | OMIM | 607440.0012 | Disease | p.GLY125SER | RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE | OMIM | 607440.0015 | Disease | p.PHE176SER | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4 | OMIM | 607440.0017 | Disease | p.TYR371CYS | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 4 |
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
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