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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 | rs4732748 | Polymorphism | p.ALA80VAL | N/A | | dbSNP | rs57479434 | Polymorphism | p.GLN359PRO | N/A | | Swiss-Prot | VAR_022649 | Disease | p.TRP539GLY | Roberts syndrome (RBS) | | OMIM | 609353.0002 | Disease | p.ARG169TER | ROBERTS SYNDROME | | OMIM | 609353.0006 | Disease | p.GLN202TER | SC PHOCOMELIA SYNDROME | | OMIM | 609353.0001 | Disease | p.TRP539GLY | ROBERTS SYNDROME | | OMIM | 609353.0005 | Disease | p.TRP423TER | SC PHOCOMELIA SYNDROME |
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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67460434
ESCO2_HUMAN RecName: Full=N-acetyltransferase ESCO2; AltName: Full=Establishment of cohesion 1 homolog 2; Short=ECO1 homolog 2
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