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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_019402 | Disease | p.ARG954GLN | Congenital fibrosis of extraocular muscles 1 (CFEOM1) | Swiss-Prot | VAR_019403 | Disease | p.ARG954TRP | Congenital fibrosis of extraocular muscles 1 (CFEOM1) | dbSNP | rs75223821 | Polymorphism | p.GLU1237ASP | N/A | Swiss-Prot | VAR_019404 | Disease | p.ILE1010THR | Congenital fibrosis of extraocular muscles 1 (CFEOM1) | Swiss-Prot | VAR_019400 | Disease | p.MET947ARG | Congenital fibrosis of extraocular muscles 1 (CFEOM1) | Swiss-Prot | VAR_019399 | Disease | p.MET356THR | Congenital fibrosis of extraocular muscles 1 (CFEOM1) | Swiss-Prot | VAR_027021 | Disease | p.MET947THR | Congenital fibrosis of extraocular muscles 1 (CFEOM1) | Swiss-Prot | VAR_019401 | Disease | p.MET947VAL | Congenital fibrosis of extraocular muscles 1 (CFEOM1) | OMIM | 608283.0002 | Disease | p.ARG954GLN | FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1||FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, INCLUDED | OMIM | 608283.0001 | Disease | p.ARG954TRP | FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1||FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B, INCLUDED | OMIM | 608283.0003 | Disease | p.ILE1010THR | FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1 | OMIM | 608283.0006 | Disease | p.MET947ARG | FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1 | OMIM | 608283.0007 | Disease | p.MET947ILE | FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B | OMIM | 608283.0004 | Disease | p.MET356THR | FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1 | OMIM | 608283.0005 | Disease | p.MET947VAL | FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1 |
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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