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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_069770 | Disease | p.ARG1148HIS | Ohdo syndrome, X-linked (OHDOX) | | Swiss-Prot | VAR_033112 | Disease | p.ARG961TRP | Opitz-Kaveggia syndrome (OKS) | | Swiss-Prot | VAR_037534 | Disease | p.ASN1007SER | Lujan-Fryns syndrome (LUJFRYS) | | Swiss-Prot | VAR_046672 | Polymorphism | p.GLN1392ARG | N/A | | Swiss-Prot | VAR_069772 | Disease | p.HIS1729ASN | Ohdo syndrome, X-linked (OHDOX) | | Swiss-Prot | VAR_069771 | Disease | p.SER1165PRO | Ohdo syndrome, X-linked (OHDOX) | | OMIM | 300188.0003 | Disease | p.ARG1148HIS | OHDO SYNDROME, X-LINKED | | OMIM | 300188.0001 | Disease | p.ARG961TRP | OPITZ-KAVEGGIA SYNDROME | | OMIM | 300188.0002 | Disease | p.ASN1007SER | LUJAN-FRYNS SYNDROME | | OMIM | 300188.0005 | Disease | p.HIS1729ASN | OHDO SYNDROME, X-LINKED | | OMIM | 300188.0004 | Disease | p.SER1165PRO | OHDO SYNDROME, X-LINKED |
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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209572775
MED12_HUMAN RecName: Full=Mediator of RNA polymerase II transcription subunit 12; AltName: Full=Activator-recruited cofactor 240 kDa component; Short=ARC240; AltName: Full=CAG repeat protein 45; AltName: Full=Mediator complex subunit 12; AltName: Full=OPA-containing protein; AltName: Full=Thyroid hormone receptor-associated protein complex 230 kDa component; Short=Trap230; AltName: Full=Trinucleotide repeat-containing gene 11 protein
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