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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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| Swiss-Prot | VAR_038809 | Polymorphism | p.ARG408CYS | N/A | | Swiss-Prot | VAR_066295 | Polymorphism | p.ARG299GLN | N/A | | Swiss-Prot | VAR_042939 | Disease | p.ARG394HIS | Limb-girdle muscular dystrophy 2H (LGMD2H) | | Swiss-Prot | VAR_018725 | Disease | p.ASP487ASN | Limb-girdle muscular dystrophy 2H (LGMD2H) | | Swiss-Prot | VAR_038807 | Disease | p.PRO130SER | Bardet-Biedl syndrome 11 (BBS11) | | Swiss-Prot | VAR_038808 | Polymorphism | p.THR257ARG | N/A | | OMIM | 602290.0004 | Disease | p.ARG394HIS | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H | | OMIM | 602290.0001 | Disease | p.ASP487ASN | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H | | OMIM | 602290.0002 | Disease | p.PRO130SER | BARDET-BIEDL SYNDROME 11 |
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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20178303
TRI32_HUMAN RecName: Full=E3 ubiquitin-protein ligase TRIM32; AltName: Full=72 kDa Tat-interacting protein; AltName: Full=Tripartite motif-containing protein 32; AltName: Full=Zinc finger protein HT2A
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