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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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| Swiss-Prot | VAR_063583 | Disease | p.ARG758CYS | Miyoshi muscular dystrophy 3 (MMD3) | | Swiss-Prot | VAR_068247 | Polymorphism | p.ARG58TRP | N/A | | Swiss-Prot | VAR_052340 | Polymorphism | p.ASN882LYS | N/A | | Swiss-Prot | VAR_023525 | Disease | p.CYS356ARG | Gnathodiaphyseal dysplasia (GDD) | | Swiss-Prot | VAR_023524 | Disease | p.CYS356GLY | Gnathodiaphyseal dysplasia (GDD) | | Swiss-Prot | VAR_063582 | Disease | p.GLY231VAL | Limb-girdle muscular dystrophy 2L (LGMD2L) | | dbSNP | rs7481951 | Polymorphism | p.LEU322PHE | N/A | | Swiss-Prot | VAR_068248 | Polymorphism | p.TRP655CYS | N/A | | OMIM | 608662.0006 | Disease | p.ARG758CYS | MIYOSHI MUSCULAR DYSTROPHY 3||MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L, INCLUDED | | OMIM | 608662.0001 | Disease | p.CYS356ARG | GNATHODIAPHYSEAL DYSPLASIA | | OMIM | 608662.0002 | Disease | p.CYS356GLY | GNATHODIAPHYSEAL DYSPLASIA | | OMIM | 608662.0005 | Disease | p.GLY231VAL | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L | | OMIM | 608662.0009 | Disease | p.THR513ILE | GNATHODIAPHYSEAL DYSPLASIA |
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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74749827
ANO5_HUMAN RecName: Full=Anoctamin-5; AltName: Full=Gnathodiaphyseal dysplasia 1 protein; AltName: Full=Transmembrane protein 16E
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