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Known Diseases associated with this Protein: |  MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE
| MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (MRXSCJ)
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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_022730 | Disease | p.ALA388PRO | Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) | | Swiss-Prot | VAR_032989 | Disease | p.ARG750TRP | Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) | | Swiss-Prot | VAR_032986 | Disease | p.ASP87GLY | Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) | | Swiss-Prot | VAR_022731 | Disease | p.ASP402TYR | Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) | | Swiss-Prot | VAR_065091 | Polymorphism | p.CYS640TYR | N/A | | Swiss-Prot | VAR_022732 | Disease | p.GLU698LYS | Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) | | Swiss-Prot | VAR_022733 | Disease | p.LEU731PHE | Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) | | Swiss-Prot | VAR_032988 | Disease | p.PHE642LEU | Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) | | Swiss-Prot | VAR_032987 | Disease | p.SER451ARG | Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) | | Swiss-Prot | VAR_032990 | Disease | p.TYR751CYS | Mental retardation, X-linked, syndromic, Claes-Jensen type (MRXSCJ) | | OMIM | 314690.0003 | Disease | p.ALA388PRO | MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE | | OMIM | 314690.0007 | Disease | p.ALA77THR | MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE | | OMIM | 314690.0004 | Disease | p.ARG694TER | MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE | | OMIM | 314690.0006 | Disease | p.ARG766TRP | MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE | | OMIM | 314690.0008 | Disease | p.CYS724TER | MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE | | OMIM | 314690.0001 | Disease | p.LEU731PHE | MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE | | OMIM | 314690.0009 | Disease | p.PRO554THR | MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE | | OMIM | 314690.0005 | Disease | p.SER451ARG | MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE |
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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117949812
KDM5C_HUMAN RecName: Full=Lysine-specific demethylase 5C; AltName: Full=Histone demethylase JARID1C; AltName: Full=Jumonji/ARID domain-containing protein 1C; AltName: Full=Protein SmcX; AltName: Full=Protein Xe169
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