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Known Diseases associated with this Protein: | GLAUCOMA 1, OPEN ANGLE, A
| GLAUCOMA 1, OPEN ANGLE, A (GLC1A)
| GLAUCOMA 1, OPEN ANGLE, A, AUTOSOMAL RECESSIVE
| GLAUCOMA 1, OPEN ANGLE, A, DIGENIC
| GLAUCOMA 3, PRIMARY CONGENITAL, A (GLC3A)
| GLAUCOMA 3, PRIMARY CONGENITAL, A, DIGENIC, INCLUDED
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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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OLF | smart00284 | 8.9e-168 | 246 | 503 |
Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_054270 | Polymorphism | p.ALA17SER | N/A | Swiss-Prot | VAR_054294 | Disease | p.ALA363THR | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_054302 | Disease | p.ALA427THR | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_009691 | Disease | p.ALA445VAL | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_009687 | Polymorphism | p.ARG422CYS | N/A | Swiss-Prot | VAR_009693 | Disease | p.ARG470CYS | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_009671 | Disease | p.ARG82CYS | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_054278 | Disease | p.ARG158GLN | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_009673 | Polymorphism | p.ARG189GLN | N/A | Swiss-Prot | VAR_054285 | Polymorphism | p.ARG272GLY | N/A | Swiss-Prot | VAR_009688 | Disease | p.ARG422HIS | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_054307 | Polymorphism | p.ARG470HIS | N/A | Swiss-Prot | VAR_009672 | Polymorphism | p.ARG82HIS | N/A | Swiss-Prot | VAR_054291 | Disease | p.ARG342LYS | Glaucoma 1, open angle, A (GLC1A) | dbSNP | rs2234926 | Polymorphism | p.ARG76LYS | N/A | Swiss-Prot | VAR_054277 | Disease | p.ARG126TRP | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_054306 | Disease | p.ASN450ASP | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_054273 | Polymorphism | p.ASN57ASP | N/A | Swiss-Prot | VAR_005476 | Disease | p.ASN480LYS | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_054274 | Polymorphism | p.ASN57SER | N/A | Swiss-Prot | VAR_009669 | Polymorphism | p.ASN73SER | N/A | Swiss-Prot | VAR_009682 | Disease | p.ASP380ALA | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_054298 | Disease | p.ASP380ASN | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_014943 | Polymorphism | p.ASP208GLU | N/A | Swiss-Prot | VAR_054275 | Polymorphism | p.ASP77GLU | N/A | Swiss-Prot | VAR_009683 | Disease | p.ASP380GLY | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_054297 | Disease | p.ASP380HIS | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_054271 | Disease | p.CYS25ARG | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_008970 | Disease | p.CYS433ARG | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_009666 | Polymorphism | p.CYS9SER | N/A | Swiss-Prot | VAR_054281 | Disease | p.CYS245TYR | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_005469 | Disease | p.GLN337ARG | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_054289 | Disease | p.GLN337GLU | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_009668 | Polymorphism | p.GLN19HIS | N/A | Swiss-Prot | VAR_054272 | Disease | p.GLN48HIS | Glaucoma 3, primary congenital, A (GLC3A) | Swiss-Prot | VAR_054284 | Disease | p.GLU261LYS | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_054287 | Polymorphism | p.GLU300LYS | N/A | Swiss-Prot | VAR_054288 | Disease | p.GLU323LYS | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_009678 | Polymorphism | p.GLU352LYS | N/A | Swiss-Prot | VAR_054301 | Polymorphism | p.GLU414LYS | N/A | Swiss-Prot | VAR_009667 | Polymorphism | p.GLY12ARG | N/A | Swiss-Prot | VAR_005468 | Disease | p.GLY246ARG | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_054283 | Disease | p.GLY252ARG | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_005471 | Disease | p.GLY367ARG | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_054303 | Disease | p.GLY434SER | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_054280 | Polymorphism | p.GLY244VAL | N/A | Swiss-Prot | VAR_005470 | Disease | p.GLY364VAL | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_054300 | Disease | p.GLY399VAL | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_054293 | Disease | p.ILE360ASN | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_009695 | Disease | p.ILE477ASN | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_054292 | Disease | p.ILE345MET | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_009692 | Disease | p.ILE465MET | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_005477 | Disease | p.ILE499PHE | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_005475 | Disease | p.ILE477SER | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_054309 | Disease | p.ILE499SER | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_054279 | Polymorphism | p.LEU215PRO | N/A | Swiss-Prot | VAR_054276 | Polymorphism | p.LEU95PRO | N/A | Swiss-Prot | VAR_009685 | Polymorphism | p.LYS398ARG | N/A | Swiss-Prot | VAR_009699 | Polymorphism | p.LYS500ARG | N/A | Swiss-Prot | VAR_009689 | Disease | p.LYS423GLU | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_054295 | Disease | p.PHE369LEU | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_009665 | Polymorphism | p.PHE4SER | N/A | Swiss-Prot | VAR_054286 | Disease | p.PRO274ARG | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_054269 | Polymorphism | p.PRO16LEU | N/A | Swiss-Prot | VAR_005472 | Disease | p.PRO370LEU | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_009696 | Disease | p.PRO481LEU | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_009680 | Disease | p.PRO361SER | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_009697 | Disease | p.PRO481THR | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_009684 | Disease | p.SER393ARG | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_054299 | Disease | p.SER393ASN | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_009674 | Polymorphism | p.SER203PHE | N/A | Swiss-Prot | VAR_054290 | Disease | p.SER341PRO | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_009690 | Polymorphism | p.SER425PRO | N/A | Swiss-Prot | VAR_009700 | Disease | p.SER502PRO | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_009679 | Polymorphism | p.THR353ILE | N/A | Swiss-Prot | VAR_054304 | Disease | p.THR438ILE | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_009676 | Disease | p.THR293LYS | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_054296 | Disease | p.THR377LYS | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_009681 | Disease | p.THR377MET | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_054305 | Disease | p.THR448PRO | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_009675 | Disease | p.TRP286ARG | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_054308 | Polymorphism | p.TYR471CYS | N/A | Swiss-Prot | VAR_009694 | Polymorphism | p.TYR473CYS | N/A | Swiss-Prot | VAR_005474 | Disease | p.TYR437HIS | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_054282 | Disease | p.VAL251ALA | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_008969 | Disease | p.VAL53ALA | Glaucoma 1, open angle, A (GLC1A) | Swiss-Prot | VAR_009686 | Polymorphism | p.VAL402ILE | N/A | Swiss-Prot | VAR_009698 | Polymorphism | p.VAL495ILE | N/A | Swiss-Prot | VAR_009677 | Polymorphism | p.VAL329MET | N/A | Swiss-Prot | VAR_005473 | Disease | p.VAL426PHE | Glaucoma 1, open angle, A (GLC1A) | OMIM | 601652.0011 | Disease | p.ARG46TER | GLAUCOMA 1, OPEN ANGLE, A, AUTOSOMAL RECESSIVE | OMIM | 601652.0006 | Disease | p.ASN480LYS | GLAUCOMA 1, OPEN ANGLE, A | OMIM | 601652.0017 | Disease | p.ASP380HIS | GLAUCOMA 1, OPEN ANGLE, A | OMIM | 601652.0012 | Disease | p.CYS433ARG | GLAUCOMA 1, OPEN ANGLE, A | OMIM | 601652.0015 | Disease | p.CYS245TYR | GLAUCOMA 1, OPEN ANGLE, A | OMIM | 601652.0009 | Disease | p.GLN337ARG | GLAUCOMA 1, OPEN ANGLE, A | OMIM | 601652.0014 | Disease | p.GLN48HIS | GLAUCOMA 1, OPEN ANGLE, A||GLAUCOMA 3, PRIMARY CONGENITAL, A, DIGENIC, INCLUDED | OMIM | 601652.0003 | Disease | p.GLN368TER | GLAUCOMA 1, OPEN ANGLE, A | OMIM | 601652.0016 | Disease | p.GLY252ARG | GLAUCOMA 1, OPEN ANGLE, A | OMIM | 601652.0008 | Disease | p.GLY367ARG | GLAUCOMA 1, OPEN ANGLE, A | OMIM | 601652.0002 | Disease | p.GLY357VAL | GLAUCOMA 1, OPEN ANGLE, A | OMIM | 601652.0013 | Disease | p.GLY399VAL | GLAUCOMA 1, OPEN ANGLE, A, DIGENIC | OMIM | 601652.0018 | Disease | p.ILE477ASN | GLAUCOMA 1, OPEN ANGLE, A | OMIM | 601652.0005 | Disease | p.ILE477SER | GLAUCOMA 1, OPEN ANGLE, A | OMIM | 601652.0010 | Disease | p.LYS423GLU | GLAUCOMA 1, OPEN ANGLE, A | OMIM | 601652.0004 | Disease | p.PRO370LEU | GLAUCOMA 1, OPEN ANGLE, A | OMIM | 601652.0001 | Disease | p.TYR437HIS | GLAUCOMA 1, OPEN ANGLE, 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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