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Known Diseases associated with this Protein: |  AUTISM, SUSCEPTIBILITY TO, X-LINKED 3, INCLUDED
| ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATION
| ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATION, INCLUDED
| MENTAL RETARDATION, X-LINKED, SYNDROMIC 13
| RETT SYNDROME
| RETT SYNDROME, ATYPICAL
| RETT SYNDROME, INCLUDED
| RETT SYNDROME, ZAPPELLA VARIANT
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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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| OMIM | 300005.0015 | Disease | p.ALA140VAL | MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 | | OMIM | 300005.0037 | Disease | p.ALA2VAL | RETT SYNDROME | | OMIM | 300005.0001 | Disease | p.ARG133CYS | RETT SYNDROME, ZAPPELLA VARIANT||RETT SYNDROME, INCLUDED | | OMIM | 300005.0016 | Disease | p.ARG306CYS | RETT SYNDROME | | OMIM | 300005.0020 | Disease | p.ARG168TER | RETT SYNDROME | | OMIM | 300005.0021 | Disease | p.ARG255TER | RETT SYNDROME | | OMIM | 300005.0005 | Disease | p.ARG270TER | RETT SYNDROME | | OMIM | 300005.0011 | Disease | p.ARG294TER | RETT SYNDROME||AUTISM, SUSCEPTIBILITY TO, X-LINKED 3, INCLUDED | | OMIM | 300005.0008 | Disease | p.ARG106TRP | RETT SYNDROME | | OMIM | 300005.0017 | Disease | p.GLU137GLY | MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 | | OMIM | 300005.0009 | Disease | p.GLU406TER | MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 | | OMIM | 300005.0026 | Disease | p.GLU455TER | RETT SYNDROME | | OMIM | 300005.0023 | Disease | p.GLY428SER | ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATION | | OMIM | 300005.0027 | Disease | p.LEU100VAL | RETT SYNDROME | | OMIM | 300005.0002 | Disease | p.PHE155SER | RETT SYNDROME | | OMIM | 300005.0036 | Disease | p.PRO152ALA | RETT SYNDROME, ZAPPELLA VARIANT | | OMIM | 300005.0033 | Disease | p.PRO225LEU | MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 | | OMIM | 300005.0035 | Disease | p.PRO322SER | MENTAL RETARDATION, X-LINKED, SYNDROMIC 13 | | OMIM | 300005.0007 | Disease | p.THR158MET | RETT SYNDROME||ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATION, INCLUDED | | OMIM | 300005.0025 | Disease | p.TYR141TER | RETT SYNDROME, ATYPICAL |
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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160707950
methyl-CpG-binding protein 2 isoform 2 [Homo sapiens]
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