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Known Diseases associated with this Protein: |  AGENESIS OF THE CORPUS CALLOSUM, WITH ABNORMAL GENITALIA (ACCAG)
| CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 (EIEE1)
| HYDRANENCEPHALY WITH ABNORMAL GENITALIA
| LISSENCEPHALY, X-LINKED 2 (LISX2)
| LISSENCEPHALY, X-LINKED, 2
| MENTAL RETARDATION, X-LINKED, ARX-RELATED (MRXARX)
| MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED
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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_033263 | Disease | p.ALA521THR | Lissencephaly, X-linked 2 (LISX2) | | Swiss-Prot | VAR_015178 | Disease | p.ARG332HIS | Lissencephaly, X-linked 2 (LISX2) | | Swiss-Prot | VAR_033260 | Disease | p.ARG332PRO | Lissencephaly, X-linked 2 (LISX2) | | Swiss-Prot | VAR_015671 | Disease | p.GLY286SER | Mental retardation, X-linked, ARX-related (MRXARX) | | Swiss-Prot | VAR_015179 | Disease | p.LEU343GLN | Lissencephaly, X-linked 2 (LISX2) | | Swiss-Prot | VAR_015669 | Disease | p.LEU33PRO | Mental retardation, X-linked, ARX-related (MRXARX) | | Swiss-Prot | VAR_033262 | Disease | p.PRO353ARG | Lissencephaly, X-linked 2 (LISX2) | | Swiss-Prot | VAR_015180 | Disease | p.PRO353LEU | Epileptic encephalopathy, early infantile, 1 (EIEE1) | | Swiss-Prot | VAR_033261 | Disease | p.THR333ASN | Agenesis of the corpus callosum, with abnormal genitalia (ACCAG) | | OMIM | 300382.0007 | Disease | p.ARG332HIS | LISSENCEPHALY, X-LINKED, 2 | | OMIM | 300382.0008 | Disease | p.GLN373TER | LISSENCEPHALY, X-LINKED, 2 | | OMIM | 300382.0016 | Disease | p.GLU369TER | HYDRANENCEPHALY WITH ABNORMAL GENITALIA | | OMIM | 300382.0020 | Disease | p.GLU78TER | LISSENCEPHALY, X-LINKED, 2 | | OMIM | 300382.0014 | Disease | p.GLY286SER | MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED | | OMIM | 300382.0012 | Disease | p.LEU343GLN | LISSENCEPHALY, X-LINKED, 2 | | OMIM | 300382.0024 | Disease | p.LEU535GLN | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 | | OMIM | 300382.0013 | Disease | p.LEU33PRO | MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED | | OMIM | 300382.0003 | Disease | p.PRO353LEU | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1 | | OMIM | 300382.0015 | Disease | p.THR333ASN | CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA | | OMIM | 300382.0023 | Disease | p.TYR27TER | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 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
21250 | Department of Biological Sciences | Phone: 410-455-2258 |
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27923733
ARX_HUMAN RecName: Full=Homeobox protein ARX; AltName: Full=Aristaless-related homeobox
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