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Known Diseases associated with this Protein: | GLAUCOMA 3, PRIMARY CONGENITAL A
| GLAUCOMA 3, PRIMARY CONGENITAL, A
| GLAUCOMA 3, PRIMARY CONGENITAL, A (GLC3A)
| GLAUCOMA 3, PRIMARY CONGENITAL, A, INCLUDED
| GLAUCOMA, EARLY-ONSET, DIGENIC
| GLAUCOMA, PRIMARY CONGENITAL, A
| GLAUCOMA, PRIMARY OPEN ANGLE (POAG)
| GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET
| GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET, INCLUDED
| GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET
| PETERS ANOMALY
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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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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_018774 | Disease | p.ALA443GLY | Glaucoma, primary open angle (POAG) | Swiss-Prot | VAR_054248 | Polymorphism | p.ALA330PHE | N/A | Swiss-Prot | VAR_054230 | Disease | p.ALA115PRO | Glaucoma 3, primary congenital, A (GLC3A) | Swiss-Prot | VAR_054237 | Polymorphism | p.ALA189PRO | N/A | dbSNP | rs1056827 | Polymorphism | p.ALA119SER | N/A | Swiss-Prot | VAR_054249 | Polymorphism | p.ALA330SER | N/A | Swiss-Prot | VAR_054254 | Disease | p.ALA388THR | Glaucoma 3, primary congenital, A (GLC3A) | Swiss-Prot | VAR_054255 | Disease | p.ARG390CYS | Glaucoma 3, primary congenital, A (GLC3A) | Swiss-Prot | VAR_054261 | Disease | p.ARG444GLN | Glaucoma 3, primary congenital, A (GLC3A) | dbSNP | rs10012 | Polymorphism | p.ARG48GLY | N/A | Swiss-Prot | VAR_016034 | Disease | p.ARG368HIS | Glaucoma 3, primary congenital, A (GLC3A) | Swiss-Prot | VAR_008353 | Disease | p.ARG390HIS | Glaucoma 3, primary congenital, A (GLC3A) | Swiss-Prot | VAR_018870 | Polymorphism | p.ARG266LEU | N/A | Swiss-Prot | VAR_054256 | Disease | p.ARG390SER | Glaucoma 3, primary congenital, A (GLC3A) | Swiss-Prot | VAR_054267 | Disease | p.ARG523THR | Glaucoma, primary open angle (POAG) | Swiss-Prot | VAR_054235 | Disease | p.ARG145TRP | Glaucoma, primary open angle (POAG) | Swiss-Prot | VAR_001247 | Disease | p.ARG469TRP | Glaucoma 3, primary congenital, A (GLC3A) | Swiss-Prot | VAR_054241 | Disease | p.ASN203SER | Glaucoma 3, primary congenital, A (GLC3A) | dbSNP | rs1800440 | Polymorphism | p.ASN453SER | N/A | Swiss-Prot | VAR_054260 | Disease | p.ASN423TYR | Glaucoma, primary open angle (POAG) | Swiss-Prot | VAR_001246 | Disease | p.ASP374ASN | Glaucoma 3, primary congenital, A (GLC3A) | Swiss-Prot | VAR_028738 | Polymorphism | p.ASP449GLU | N/A | Swiss-Prot | VAR_054268 | Disease | p.ASP530GLY | Glaucoma, primary open angle (POAG) | Swiss-Prot | VAR_028737 | Polymorphism | p.ASP441HIS | N/A | Swiss-Prot | VAR_054238 | Disease | p.ASP192VAL | Glaucoma 3, primary congenital, A (GLC3A) | Swiss-Prot | VAR_054234 | Disease | p.GLN144ARG | Glaucoma 3, primary congenital, A (GLC3A) | Swiss-Prot | VAR_028735 | Polymorphism | p.GLN68ARG | N/A | Swiss-Prot | VAR_054232 | Polymorphism | p.GLN144HIS | N/A | Swiss-Prot | VAR_054233 | Disease | p.GLN144PRO | Glaucoma 3, primary congenital, A (GLC3A) | Swiss-Prot | VAR_054264 | Disease | p.GLU499GLY | Glaucoma 3, primary congenital, A (GLC3A) | Swiss-Prot | VAR_054243 | Disease | p.GLU229LYS | Glaucoma, primary open angle (POAG) | Swiss-Prot | VAR_008352 | Disease | p.GLU387LYS | Glaucoma, primary open angle (POAG) | Swiss-Prot | VAR_054244 | Disease | p.GLY232ARG | Glaucoma, primary open angle (POAG) | Swiss-Prot | VAR_054263 | Disease | p.GLY466ASP | Glaucoma 3, primary congenital, A (GLC3A) | Swiss-Prot | VAR_001244 | Disease | p.GLY61GLU | Glaucoma, primary open angle (POAG) | Swiss-Prot | VAR_054236 | Polymorphism | p.GLY184SER | N/A | Swiss-Prot | VAR_001245 | Disease | p.GLY365TRP | Glaucoma 3, primary congenital, A (GLC3A) | Swiss-Prot | VAR_054257 | Disease | p.ILE399SER | Glaucoma 3, primary congenital, A (GLC3A) | Swiss-Prot | VAR_054251 | Disease | p.LEU345PHE | Glaucoma, primary open angle (POAG) | Swiss-Prot | VAR_054229 | Disease | p.LEU77PRO | Glaucoma 3, primary congenital, A (GLC3A) | dbSNP | rs1056836 | Polymorphism | p.LEU432VAL | N/A | Swiss-Prot | VAR_054231 | Disease | p.MET132ARG | Glaucoma 3, primary congenital, A (GLC3A) | Swiss-Prot | VAR_054262 | Disease | p.PHE445CYS | Glaucoma 3, primary congenital, A (GLC3A) | Swiss-Prot | VAR_054239 | Disease | p.PRO193LEU | Glaucoma 3, primary congenital, A (GLC3A) | Swiss-Prot | VAR_008351 | Polymorphism | p.PRO379LEU | N/A | Swiss-Prot | VAR_008354 | Disease | p.PRO437LEU | Glaucoma 3, primary congenital, A (GLC3A) | Swiss-Prot | VAR_054228 | Polymorphism | p.PRO52LEU | N/A | Swiss-Prot | VAR_054245 | Disease | p.SER239ARG | Glaucoma 3, primary congenital, A (GLC3A) | dbSNP | rs9341248 | Polymorphism | p.SER206ASN | N/A | Swiss-Prot | VAR_054242 | Disease | p.SER215ILE | Glaucoma 3, primary congenital, A (GLC3A) | Swiss-Prot | VAR_054265 | Polymorphism | p.SER515LEU | N/A | Swiss-Prot | VAR_054227 | Disease | p.SER28TRP | Glaucoma, primary open angle (POAG) | Swiss-Prot | VAR_008350 | Disease | p.TRP57CYS | Glaucoma, primary open angle (POAG) | Swiss-Prot | VAR_028736 | Disease | p.TYR81ASN | Glaucoma, primary open angle (POAG) | Swiss-Prot | VAR_054266 | Polymorphism | p.VAL518ALA | N/A | Swiss-Prot | VAR_054259 | Polymorphism | p.VAL422GLY | N/A | Swiss-Prot | VAR_054240 | Disease | p.VAL198ILE | Glaucoma 3, primary congenital, A (GLC3A) | Swiss-Prot | VAR_054247 | Disease | p.VAL320LEU | Glaucoma 3, primary congenital, A (GLC3A) | Swiss-Prot | VAR_054253 | Disease | p.VAL364MET | Glaucoma 3, primary congenital, A (GLC3A) | Swiss-Prot | VAR_054258 | Disease | p.VAL409PHE | Glaucoma, primary open angle (POAG) | OMIM | 601771.0012 | Disease | p.ARG368HIS | GLAUCOMA, EARLY-ONSET, DIGENIC||GLAUCOMA 3, PRIMARY CONGENITAL, A, INCLUDED | OMIM | 601771.0006 | Disease | p.ARG469TRP | GLAUCOMA 3, PRIMARY CONGENITAL, A | OMIM | 601771.0016 | Disease | p.ASN423TYR | GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET||GLAUCOMA 3, PRIMARY CONGENITAL, A, INCLUDED | OMIM | 601771.0007 | Disease | p.ASP374ASN | GLAUCOMA 3, PRIMARY CONGENITAL, A | OMIM | 601771.0013 | Disease | p.GLY232ARG | GLAUCOMA 3, PRIMARY CONGENITAL, A||GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET, INCLUDED | OMIM | 601771.0003 | Disease | p.GLY61GLU | GLAUCOMA 3, PRIMARY CONGENITAL, A | OMIM | 601771.0005 | Disease | p.GLY365TRP | GLAUCOMA, PRIMARY CONGENITAL, A | OMIM | 601771.0008 601771.0014 | Disease | p.LYS387GLU | GLAUCOMA 3, PRIMARY CONGENITAL, A||GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET, INCLUDED | OMIM | 601771.0018 | Disease | p.PHE261LEU | GLAUCOMA 3, PRIMARY CONGENITAL A | OMIM | 601771.0019 | Disease | p.PRO52LEU | GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET | OMIM | 601771.0010 | Disease | p.TRP57TER | PETERS ANOMALY | OMIM | 601771.0017 | Disease | p.TYR81ASN | GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET |
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
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