|
|
|
|
| | 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. |
---|
Default View:
| |
---|
Domains found on the Protein Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
---|
DYNc | smart00053 | 5.2e-09 | 265 | 515 |
Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_060825 | Disease | p.ALA8SER | Optic atrophy 1 (OPA1) | Swiss-Prot | VAR_060836 | Disease | p.ALA357THR | Optic atrophy 1 (OPA1) | Swiss-Prot | VAR_022926 | Polymorphism | p.ALA192VAL | N/A | Swiss-Prot | VAR_060868 | Disease | p.ARG932CYS | Optic atrophy 1 (OPA1) | Swiss-Prot | VAR_011483 | Disease | p.ARG290GLN | Optic atrophy 1 (OPA1) | Swiss-Prot | VAR_060854 | Disease | p.ARG590GLN | Optic atrophy 1 (OPA1) | Swiss-Prot | VAR_015741 | Disease | p.ARG445HIS | Optic atrophy 1 (OPA1) | Swiss-Prot | VAR_022929 | Disease | p.ARG571HIS | Optic atrophy 1 (OPA1) | Swiss-Prot | VAR_060865 | Disease | p.ARG882LEU | Optic atrophy 1 (OPA1) | Swiss-Prot | VAR_060832 | Disease | p.ARG290TRP | Optic atrophy 1 (OPA1) | Swiss-Prot | VAR_060855 | Disease | p.ARG590TRP | Optic atrophy 1 (OPA1) | Swiss-Prot | VAR_060861 | Disease | p.ARG781TRP | Optic atrophy 1 (OPA1) | Swiss-Prot | VAR_060841 | Disease | p.ASN430ASP | Optic atrophy 1 (OPA1) | Swiss-Prot | VAR_060859 | Disease | p.ASN728LYS | Optic atrophy 1 (OPA1) | Swiss-Prot | VAR_060831 | Disease | p.ASP273ALA | Optic atrophy 1 (OPA1) | Swiss-Prot | VAR_060849 | Polymorphism | p.ASP550ASN | N/A | Swiss-Prot | VAR_060846 | Disease | p.ASP470GLY | Optic atrophy 1 (OPA1) | Swiss-Prot | VAR_060842 | Disease | p.ASP438VAL | Optic atrophy 1 (OPA1) | Swiss-Prot | VAR_060851 | Disease | p.CYS551TYR | Optic atrophy 1 (OPA1) | Swiss-Prot | VAR_060834 | Disease | p.GLN310ARG | Optic atrophy 1 (OPA1) | Swiss-Prot | VAR_060862 | Disease | p.GLN785ARG | Optic atrophy 1 (OPA1) | Swiss-Prot | VAR_060867 | Polymorphism | p.GLU907GLY | N/A | Swiss-Prot | VAR_060829 | Disease | p.GLU270LYS | Optic atrophy 1 (OPA1) | Swiss-Prot | VAR_060847 | Disease | p.GLU487LYS | Optic atrophy 1 (OPA1) | Swiss-Prot | VAR_060860 | Disease | p.GLY768ASP | Optic atrophy 1 (OPA1) | Swiss-Prot | VAR_011484 | Disease | p.GLY300GLU | Optic atrophy 1 (OPA1) | Swiss-Prot | VAR_060837 | Disease | p.ILE382MET | Optic atrophy 1 (OPA1) | Swiss-Prot | VAR_022927 | Disease | p.LEU396ARG | Optic atrophy 1 (OPA1) | Swiss-Prot | VAR_060838 | Disease | p.LEU384PHE | Optic atrophy 1 (OPA1) | Swiss-Prot | VAR_060830 | Disease | p.LEU272PRO | Optic atrophy 1 (OPA1) | Swiss-Prot | VAR_060839 | Disease | p.LEU396PRO | Optic atrophy 1 (OPA1) | Swiss-Prot | VAR_060852 | Disease | p.LEU574PRO | Optic atrophy 1 (OPA1) | Swiss-Prot | VAR_060856 | Disease | p.LEU593PRO | Optic atrophy 1 (OPA1) | Swiss-Prot | VAR_060866 | Disease | p.LEU887PRO | Optic atrophy 1 (OPA1) | Swiss-Prot | VAR_028370 | Disease | p.LEU939PRO | Optic atrophy 1 (OPA1) | Swiss-Prot | VAR_060869 | Disease | p.LEU949PRO | Optic atrophy 1 (OPA1) | Swiss-Prot | VAR_060848 | Disease | p.LYS505ASN | Optic atrophy 1 (OPA1) | Swiss-Prot | VAR_060845 | Disease | p.LYS468GLU | Optic atrophy 1 (OPA1) | Swiss-Prot | VAR_067355 | Disease | p.PRO400ALA | Optic atrophy 1 (OPA1) | Swiss-Prot | VAR_022925 | Polymorphism | p.PRO167LEU | N/A | Swiss-Prot | VAR_026533 | Disease | p.SER545ARG | Optic atrophy 1 (OPA1) | dbSNP | rs7624750 | Polymorphism | p.SER158ASN | N/A | Swiss-Prot | VAR_060857 | Disease | p.SER646LEU | Optic atrophy 1 (OPA1) | Swiss-Prot | VAR_060863 | Disease | p.SER823TYR | Optic atrophy 1 (OPA1) | Swiss-Prot | VAR_060843 | Disease | p.THR449ARG | Optic atrophy 1 (OPA1) | Swiss-Prot | VAR_022928 | Disease | p.THR503LYS | Optic atrophy 1 (OPA1) | Swiss-Prot | VAR_060827 | Disease | p.THR95MET | Optic atrophy 1 (OPA1) | Swiss-Prot | VAR_060828 | Disease | p.TYR102CYS | Optic atrophy 1 (OPA1) | Swiss-Prot | VAR_060853 | Disease | p.TYR582CYS | Dominant optic atrophy plus syndrome (DOA+) | Swiss-Prot | VAR_060826 | Disease | p.TYR80CYS | Optic atrophy 1 (OPA1) | Swiss-Prot | VAR_060864 | Disease | p.TYR841CYS | Optic atrophy 1 (OPA1) | OMIM | 605290.0005 | Disease | p.ARG235GLN | OPTIC ATROPHY 1 | OMIM | 605290.0011 | Disease | p.ARG390HIS | OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY,||ATAXIA, AND NEUROPATHY | OMIM | 605290.0006 | Disease | p.ARG311TER | OPTIC ATROPHY 1 | OMIM | 605290.0001 | Disease | p.GLY245GLU | OPTIC ATROPHY 1 | OMIM | 605290.0016 | Disease | p.GLY384VAL | OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY,||ATAXIA, AND NEUROPATHY | OMIM | 605290.0018 | Disease | p.ILE327MET | OPTIC ATROPHY 1||OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY,||ATAXIA, AND NEUROPATHY, INCLUDED | OMIM | 605290.0014 | Disease | p.ILE377VAL | OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY,||ATAXIA, AND NEUROPATHY | OMIM | 605290.0015 | Disease | p.SER490ARG | OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY,||ATAXIA, AND NEUROPATHY | OMIM | 605290.0013 | Disease | p.TYR527CYS | OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY,||ATAXIA, AND NEUROPATHY | OMIM | 605290.0017 | Disease | p.VAL855ASP | OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY,||ATAXIA, AND NEUROPATHY |
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 |
|