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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_035084 | Disease | p.ARG1664HIS | Rubinstein-Taybi syndrome 1 (RSTS1) | | Swiss-Prot | VAR_015578 | Disease | p.ARG1378PRO | Rubinstein-Taybi syndrome 1 (RSTS1) | | Swiss-Prot | VAR_035080 | Disease | p.GLU1278LYS | Rubinstein-Taybi syndrome 1 (RSTS1) | | Swiss-Prot | VAR_035083 | Disease | p.HIS1470ARG | Rubinstein-Taybi syndrome 1 (RSTS1) | | Swiss-Prot | VAR_035081 | Disease | p.THR1447ILE | Rubinstein-Taybi syndrome 1 (RSTS1) | | Swiss-Prot | VAR_037305 | Disease | p.TYR1175CYS | Rubinstein-Taybi syndrome 1 (RSTS1) | | Swiss-Prot | VAR_035082 | Disease | p.TYR1450HIS | Rubinstein-Taybi syndrome 1 (RSTS1) | | Swiss-Prot | VAR_027953 | Polymorphism | p.VAL1414ILE | N/A | | dbSNP | rs61731383 | Polymorphism | p.VAL992ILE | N/A | | OMIM | 600140.0003 | Disease | p.ARG1378PRO | RUBINSTEIN-TAYBI SYNDROME 1 | | OMIM | 600140.0001 | Disease | p.GLN136TER | RUBINSTEIN-TAYBI SYNDROME 1 | | OMIM | 600140.0002 | Disease | p.GLN357TER | RUBINSTEIN-TAYBI SYNDROME 1 | | OMIM | 600140.0006 | Disease | p.GLU1278LYS | RUBINSTEIN-TAYBI SYNDROME 1 | | OMIM | 600140.0008 | Disease | p.THR910ALA | RUBINSTEIN-TAYBI SYNDROME 1, INCOMPLETE | | OMIM | 600140.0005 | Disease | p.TYR1175CYS | RUBINSTEIN-TAYBI SYNDROME 1, INCOMPLETE |
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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116241283
CBP_HUMAN RecName: Full=CREB-binding protein
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