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Known Diseases associated with this Protein: | AMYOTROPHIC LATERAL SCLEROSIS 12 (ALS12)
| GLAUCOMA 1, OPEN ANGLE, E (GLC1E)
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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_021547 | Polymorphism | p.ARG545GLN | N/A | Swiss-Prot | VAR_021540 | Disease | p.GLU103ASP | Glaucoma 1, open angle, E (GLC1E) | Swiss-Prot | VAR_063597 | Disease | p.GLU478GLY | Amyotrophic lateral sclerosis 12 (ALS12) | Swiss-Prot | VAR_021538 | Disease | p.GLU50LYS | Glaucoma 1, open angle, E (GLC1E) | Swiss-Prot | VAR_021546 | Disease | p.HIS486ARG | Glaucoma 1, open angle, E (GLC1E) | Swiss-Prot | VAR_021537 | Disease | p.HIS26ASP | Glaucoma 1, open angle, E (GLC1E) | Swiss-Prot | VAR_021544 | Polymorphism | p.LYS322GLU | N/A | Swiss-Prot | VAR_021542 | Polymorphism | p.LYS213HIS | N/A | Swiss-Prot | VAR_021539 | Polymorphism | p.MET98LYS | N/A | Swiss-Prot | VAR_021541 | Polymorphism | p.PRO201SER | N/A | Swiss-Prot | VAR_021543 | Polymorphism | p.SER216ARG | N/A | Swiss-Prot | VAR_030769 | Polymorphism | p.SER308PRO | N/A | Swiss-Prot | VAR_021545 | Polymorphism | p.THR357PRO | N/A |
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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