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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_062761 | Disease | p.ALA302THR | Congenital fibrosis of extraocular muscles 3A (CFEOM3A) | Swiss-Prot | VAR_066208 | Disease | p.ALA302VAL | Cortical dysplasia, complex, with other brain malformations 1 (CDCBM1) | Swiss-Prot | VAR_062759 | Disease | p.ARG262CYS | Congenital fibrosis of extraocular muscles 3A (CFEOM3A) | Swiss-Prot | VAR_062762 | Disease | p.ARG380CYS | Congenital fibrosis of extraocular muscles 3A (CFEOM3A) | Swiss-Prot | VAR_062758 | Disease | p.ARG62GLN | Congenital fibrosis of extraocular muscles 3A (CFEOM3A) | Swiss-Prot | VAR_062760 | Disease | p.ARG262HIS | Congenital fibrosis of extraocular muscles 3A (CFEOM3A) | Swiss-Prot | VAR_062765 | Disease | p.ASP417ASN | Congenital fibrosis of extraocular muscles 3A (CFEOM3A) | Swiss-Prot | VAR_062764 | Disease | p.ASP417HIS | Congenital fibrosis of extraocular muscles 3A (CFEOM3A) | Swiss-Prot | VAR_066207 | Disease | p.GLU205LYS | Cortical dysplasia, complex, with other brain malformations 1 (CDCBM1) | Swiss-Prot | VAR_062763 | Disease | p.GLU410LYS | Congenital fibrosis of extraocular muscles 3A (CFEOM3A) | Swiss-Prot | VAR_066209 | Disease | p.MET323VAL | Cortical dysplasia, complex, with other brain malformations 1 (CDCBM1) | Swiss-Prot | VAR_066206 | Disease | p.THR178MET | Cortical dysplasia, complex, with other brain malformations 1 (CDCBM1) | OMIM | 602661.0002 | Disease | p.ALA302THR | FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR||INVOLVEMENT | OMIM | 602661.0008 | Disease | p.ALA302VAL | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 | OMIM | 602661.0001 | Disease | p.ARG262CYS | FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR||INVOLVEMENT | OMIM | 602661.0004 | Disease | p.ASP417ASN | FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR||INVOLVEMENT | OMIM | 602661.0003 | Disease | p.ASP417HIS | FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR||INVOLVEMENT | OMIM | 602661.0007 | Disease | p.GLU205LYS | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 | OMIM | 602661.0005 | Disease | p.GLU410LYS | FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR||INVOLVEMENT | OMIM | 602661.0009 | Disease | p.MET323VAL | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1 | OMIM | 602661.0006 | Disease | p.THR178MET | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 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.
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