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Known Diseases associated with this Protein: | GLAUCOMA 1, OPEN ANGLE, G (GLC1G)
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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_025967 | Disease | p.ALA449THR | Glaucoma 1, open angle, G (GLC1G) | Swiss-Prot | VAR_025964 | Polymorphism | p.ALA163VAL | N/A | Swiss-Prot | VAR_025968 | Disease | p.ARG529GLN | Glaucoma 1, open angle, G (GLC1G) | Swiss-Prot | VAR_025966 | Disease | p.ASN355SER | Glaucoma 1, open angle, G (GLC1G) | Swiss-Prot | VAR_025969 | Disease | p.ASP658GLY | Glaucoma 1, open angle, G (GLC1G) | Swiss-Prot | VAR_053430 | Polymorphism | p.GLU454GLN | N/A | dbSNP | rs11241095 | Polymorphism | p.ILE264VAL | N/A | Swiss-Prot | VAR_025963 | Polymorphism | p.LEU25PRO | N/A | dbSNP | rs11956837 | Polymorphism | p.MET671VAL | N/A | Swiss-Prot | VAR_025965 | Polymorphism | p.TYR216PRO | 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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