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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 | rs34689457 | Polymorphism | p.ALA14THR | N/A | | Swiss-Prot | VAR_025704 | Disease | p.ARG57GLY | Severe combined immunodeficiency due to NHEJ1 deficiency (NHEJ1-SCID) | | Swiss-Prot | VAR_025705 | Disease | p.CYS123ARG | Severe combined immunodeficiency due to NHEJ1 deficiency (NHEJ1-SCID) | | dbSNP | rs35270667 | Polymorphism | p.GLN256LEU | N/A | | Swiss-Prot | VAR_038791 | Polymorphism | p.HIS89ARG | N/A | | OMIM | 611290.0001 | Disease | p.ARG57GLY | SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY, GROWTH RETARDATION,||AND SENSITIVITY TO IONIZING RADIATION | | OMIM | 611290.0003 | Disease | p.ARG178TER | SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY, GROWTH RETARDATION,||AND SENSITIVITY TO IONIZING RADIATION | | OMIM | 611290.0002 | Disease | p.CYS123ARG | SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY, GROWTH RETARDATION,||AND SENSITIVITY TO IONIZING RADIATION |
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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74734059
NHEJ1_HUMAN RecName: Full=Non-homologous end-joining factor 1; AltName: Full=Protein cernunnos; AltName: Full=XRCC4-like factor
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