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Known Diseases associated with this Protein: | CORNEAL DYSTROPHY, AVELLINO TYPE
| CORNEAL DYSTROPHY, AVELLINO TYPE (CDA)
| CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE
| CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE (EBMD)
| CORNEAL DYSTROPHY, GROENOUW TYPE 1 (CDGG1)
| CORNEAL DYSTROPHY, GROENOUW TYPE I
| CORNEAL DYSTROPHY, LATTICE TYPE 1 (CDL1)
| CORNEAL DYSTROPHY, LATTICE TYPE 3A (CDL3A)
| CORNEAL DYSTROPHY, LATTICE TYPE I
| CORNEAL DYSTROPHY, LATTICE TYPE IIIA
| CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE
| CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE (CDRB)
| CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE
| CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE (CDTB)
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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 Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_031539 | Disease | p.ALA546ASP | Corneal dystrophy, lattice type 1 (CDL1) | Swiss-Prot | VAR_012448 | Disease | p.ALA546THR | Corneal dystrophy, lattice type 3A (CDL3A) | Swiss-Prot | VAR_005076 | Disease | p.ARG124CYS | Corneal dystrophy, lattice type 1 (CDL1) | Swiss-Prot | VAR_005082 | Disease | p.ARG555GLN | Corneal dystrophy, Thiel-Behnke type (CDTB) | Swiss-Prot | VAR_031534 | Polymorphism | p.ARG496GLY | N/A | Swiss-Prot | VAR_005077 | Disease | p.ARG124HIS | Corneal dystrophy, Avellino type (CDA) | Swiss-Prot | VAR_005078 | Disease | p.ARG124LEU | Corneal dystrophy, Reis-Bucklers type (CDRB) | Swiss-Prot | VAR_012444 | Disease | p.ARG124SER | Corneal dystrophy, Groenouw type 1 (CDGG1) | Swiss-Prot | VAR_031546 | Disease | p.ARG666SER | Corneal dystrophy, epithelial basement membrane (EBMD) | Swiss-Prot | VAR_005083 | Disease | p.ARG555TRP | Corneal dystrophy, Groenouw type 1 (CDGG1) | Swiss-Prot | VAR_012449 | Polymorphism | p.ASN622HIS | N/A | Swiss-Prot | VAR_018486 | Disease | p.ASN622LYS | Corneal dystrophy, lattice type 3A (CDL3A) | Swiss-Prot | VAR_012447 | Polymorphism | p.ASN544SER | N/A | Swiss-Prot | VAR_031532 | Polymorphism | p.ASP123HIS | N/A | Swiss-Prot | VAR_018487 | Disease | p.GLY623ASP | Corneal dystrophy, lattice type 1 (CDL1) | Swiss-Prot | VAR_031544 | Polymorphism | p.GLY594VAL | N/A | Swiss-Prot | VAR_031543 | Disease | p.HIS572ARG | Corneal dystrophy, lattice type 1 (CDL1) | Swiss-Prot | VAR_012450 | Disease | p.HIS626ARG | Corneal dystrophy, lattice type 1 (CDL1) | Swiss-Prot | VAR_018488 | Disease | p.HIS626PRO | Corneal dystrophy, lattice type 1 (CDL1) | Swiss-Prot | VAR_014335 | Polymorphism | p.ILE200PHE | N/A | Swiss-Prot | VAR_031536 | Disease | p.LEU509ARG | Corneal dystrophy, epithelial basement membrane (EBMD) | Swiss-Prot | VAR_018484 | Disease | p.LEU518ARG | Corneal dystrophy, lattice type 1 (CDL1) | Swiss-Prot | VAR_005080 | Disease | p.LEU527ARG | Corneal dystrophy, lattice type 1 (CDL1) | Swiss-Prot | VAR_031541 | Disease | p.LEU569ARG | Corneal dystrophy, lattice type 1 (CDL1) | Swiss-Prot | VAR_031533 | Polymorphism | p.LEU269PHE | N/A | Swiss-Prot | VAR_012446 | Disease | p.LEU518PRO | Corneal dystrophy, lattice type 1 (CDL1) | Swiss-Prot | VAR_031538 | Disease | p.PHE540SER | Corneal dystrophy, lattice type 3A (CDL3A) | Swiss-Prot | VAR_031540 | Disease | p.PRO551GLN | Corneal dystrophy, lattice type 1 (CDL1) | Swiss-Prot | VAR_005079 | Disease | p.PRO501THR | Corneal dystrophy, lattice type 3A (CDL3A) | Swiss-Prot | VAR_018485 | Disease | p.THR538ARG | Corneal dystrophy, lattice type 1 (CDL1) | Swiss-Prot | VAR_031535 | Disease | p.VAL505ASP | Corneal dystrophy, lattice type 1 (CDL1) | Swiss-Prot | VAR_031537 | Polymorphism | p.VAL539ASP | N/A | Swiss-Prot | VAR_018489 | Polymorphism | p.VAL631ASP | N/A | Swiss-Prot | VAR_031531 | Polymorphism | p.VAL113ILE | N/A | OMIM | 601692.0003 | Disease | p.ARG124CYS | CORNEAL DYSTROPHY, LATTICE TYPE I | OMIM | 601692.0002 | Disease | p.ARG555GLN | CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE | OMIM | 601692.0004 | Disease | p.ARG124HIS | CORNEAL DYSTROPHY, AVELLINO TYPE | OMIM | 601692.0007 | Disease | p.ARG124LEU | CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE | OMIM | 601692.0008 | Disease | p.ARG124SER | CORNEAL DYSTROPHY, GROENOUW TYPE I | OMIM | 601692.0013 | Disease | p.ARG666SER | CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE | OMIM | 601692.0001 | Disease | p.ARG555TRP | CORNEAL DYSTROPHY, GROENOUW TYPE I | OMIM | 601692.0011 | Disease | p.GLY623ASP | CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE | OMIM | 601692.0012 | Disease | p.LEU509ARG | CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE | OMIM | 601692.0010 | Disease | p.PHE540SER | CORNEAL DYSTROPHY, LATTICE TYPE IIIA | OMIM | 601692.0005 | Disease | p.PRO501THR | CORNEAL DYSTROPHY, LATTICE TYPE IIIA |
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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