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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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| Swiss-Prot | VAR_024058 | Polymorphism | p.ARG590GLN | N/A | | Swiss-Prot | VAR_043875 | Disease | p.ARG569HIS | Lethal congenital contracture syndrome 1 (LCCS1) | | Swiss-Prot | VAR_024056 | Polymorphism | p.GLY130ASP | N/A | | Swiss-Prot | VAR_043877 | Disease | p.ILE684THR | Lethal arthrogryposis with anterior horn cell disease (LAAHD) | | dbSNP | rs2275260 | Polymorphism | p.ILE243VAL | N/A | | Swiss-Prot | VAR_043876 | Disease | p.VAL617MET | Lethal arthrogryposis with anterior horn cell disease (LAAHD) | | OMIM | 603371.0002 | Disease | p.ARG569HIS | LETHAL CONGENITAL CONTRACTURE SYNDROME 1 | | OMIM | 603371.0004 | Disease | p.ILE684THR | LETHAL ARTHROGRYOPOSIS WITH ANTERIOR HORN CELL DISEASE | | OMIM | 603371.0003 | Disease | p.VAL617MET | LETHAL ARTHROGRYOPOSIS WITH ANTERIOR HORN CELL DISEASE |
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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83288218
GLE1_HUMAN RecName: Full=Nucleoporin GLE1; Short=hGLE1; AltName: Full=GLE1-like protein
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