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Known Diseases associated with this Protein: |  MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY
| MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (MCPHSBA)
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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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| dbSNP | rs2848477 | Polymorphism | p.GLU69ASP | N/A | | Swiss-Prot | VAR_065066 | Disease | p.LEU371PRO | Microcephaly, postnatal progressive, with seizures and brain atrophy (MCPHSBA) | | Swiss-Prot | VAR_057781 | Polymorphism | p.PHE357LEU | N/A | | OMIM | 603810.0001 | Disease | p.LEU371PRO | MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY |
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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296437366
MED17_HUMAN RecName: Full=Mediator of RNA polymerase II transcription subunit 17; AltName: Full=Activator-recruited cofactor 77 kDa component; Short=ARC77; AltName: Full=Cofactor required for Sp1 transcriptional activation subunit 6; Short=CRSP complex subunit 6; AltName: Full=Mediator complex subunit 17; AltName: Full=Thyroid hormone receptor-associated protein complex 80 kDa component; Short=Trap80; AltName: Full=Transcriptional coactivator CRSP77; AltName: Full=Vitamin D3 receptor-interacting protein complex 80 kDa component; Short=DRIP80
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