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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_063075 | Disease | p.ALA13THR | Focal segmental glomerulosclerosis 5 (FSGS5) | Swiss-Prot | VAR_063081 | Disease | p.ARG218GLN | Focal segmental glomerulosclerosis 5 (FSGS5) | Swiss-Prot | VAR_063080 | Disease | p.ARG214HIS | Focal segmental glomerulosclerosis 5 (FSGS5) | Swiss-Prot | VAR_063082 | Disease | p.ARG218TRP | Focal segmental glomerulosclerosis 5 (FSGS5) | Swiss-Prot | VAR_067590 | Disease | p.CYS104ARG | Charcot-Marie-Tooth disease, dominant, intermediate type, E (CMTDIE) | Swiss-Prot | VAR_067589 | Disease | p.CYS104PHE | Charcot-Marie-Tooth disease, dominant, intermediate type, E (CMTDIE) | Swiss-Prot | VAR_067591 | Disease | p.CYS104TRP | Charcot-Marie-Tooth disease, dominant, intermediate type, E (CMTDIE) | Swiss-Prot | VAR_063077 | Disease | p.GLU184LYS | Focal segmental glomerulosclerosis 5 (FSGS5) | Swiss-Prot | VAR_063083 | Disease | p.GLU220LYS | Focal segmental glomerulosclerosis 5 (FSGS5) | dbSNP | rs9672065 | Polymorphism | p.GLY1160SER | N/A | Swiss-Prot | VAR_067593 | Disease | p.LEU132ARG | Charcot-Marie-Tooth disease, dominant, intermediate type, E (CMTDIE) | Swiss-Prot | VAR_063079 | Disease | p.LEU198ARG | Focal segmental glomerulosclerosis 5 (FSGS5) | Swiss-Prot | VAR_067592 | Disease | p.LEU128PRO | Charcot-Marie-Tooth disease, dominant, intermediate type, E (CMTDIE) | Swiss-Prot | VAR_068845 | Disease | p.LEU245PRO | Focal segmental glomerulosclerosis 5 (FSGS5) | Swiss-Prot | VAR_063076 | Disease | p.LEU42PRO | Focal segmental glomerulosclerosis 5 (FSGS5) | Swiss-Prot | VAR_037117 | Polymorphism | p.PRO1096SER | N/A | Swiss-Prot | VAR_063078 | Disease | p.SER186PRO | Focal segmental glomerulosclerosis 5 (FSGS5) | Swiss-Prot | VAR_037118 | Polymorphism | p.THR1135MET | N/A | OMIM | 610982.0002 | Disease | p.ARG218GLN | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5 | OMIM | 610982.0004 | Disease | p.ARG214HIS | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5 | OMIM | 610982.0003 | Disease | p.ARG218TRP | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5 | OMIM | 610982.0006 | Disease | p.CYS104ARG | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E | OMIM | 610982.0007 | Disease | p.CYS104PHE | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E | OMIM | 610982.0008 | Disease | p.CYS104TRP | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E | OMIM | 610982.0010 | Disease | p.LEU132ARG | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E | OMIM | 610982.0009 | Disease | p.LEU128PRO | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E | OMIM | 610982.0005 | Disease | p.LEU42PRO | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5 | OMIM | 610982.0001 | Disease | p.SER186PRO | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5 |
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.
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