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Known Diseases associated with this Protein: |  DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16 (EIEE16)
| FAMILIAL INFANTILE MYOCLONIC EPILEPSY (FIME)
| MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL
| SEIZURES SYNDROME
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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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 Default View:
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 Domains found on the Protein Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_064367 | Disease | p.ALA515VAL | Familial infantile myoclonic epilepsy (FIME) | | Swiss-Prot | VAR_064365 | Disease | p.ASP147HIS | Familial infantile myoclonic epilepsy (FIME) | | Swiss-Prot | VAR_064366 | Disease | p.PHE251LEU | Familial infantile myoclonic epilepsy (FIME) | | Swiss-Prot | VAR_070102 | Disease | p.PHE229SER | Epileptic encephalopathy, early infantile, 16 (EIEE16) | | OMIM | 613577.0002 | Disease | p.ALA509VAL | MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL | | OMIM | 613577.0007 | Disease | p.ARG242CYS | DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND||SEIZURES SYNDROME | | OMIM | 613577.0008 | Disease | p.ARG40CYS | DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND||SEIZURES SYNDROME | | OMIM | 613577.0001 | Disease | p.ASP147HIS | MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL | | OMIM | 613577.0006 | Disease | p.CYS156TER | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16 | | OMIM | 613577.0009 | Disease | p.GLN20GLU | DEAFNESS, ONYCHODYSTROPHY, OSTEODYSTROPHY, MENTAL RETARDATION, AND||SEIZURES SYNDROME | | OMIM | 613577.0003 | Disease | p.PHE251LEU | MYOCLONIC EPILEPSY, INFANTILE, FAMILIAL | | OMIM | 613577.0005 | Disease | p.PHE229SER | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16 |
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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148887040
TBC24_HUMAN RecName: Full=TBC1 domain family member 24
12
0
8
0
4
