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Known Diseases associated with this Protein: |  NICOLAIDES-BARAITSER 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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| dbSNP | rs2296212 | Polymorphism | p.ASP1528GLU | N/A | | OMIM | 600014.0010 | Disease | p.ALA1201VAL | NICOLAIDES-BARAITSER SYNDROME | | OMIM | 600014.0003 | Disease | p.ARG1159GLN | NICOLAIDES-BARAITSER SYNDROME | | OMIM | 600014.0005 | Disease | p.ARG1159GLY | NICOLAIDES-BARAITSER SYNDROME | | OMIM | 600014.0007 | Disease | p.ARG1162HIS | NICOLAIDES-BARAITSER SYNDROME | | OMIM | 600014.0008 | Disease | p.ARG1159LEU | NICOLAIDES-BARAITSER SYNDROME | | OMIM | 600014.0001 | Disease | p.ARG1213TRP | NICOLAIDES-BARAITSER SYNDROME | | OMIM | 600014.0004 | Disease | p.ASP1158VAL | NICOLAIDES-BARAITSER SYNDROME | | OMIM | 600014.0012 | Disease | p.GLY752ALA | NICOLAIDES-BARAITSER SYNDROME | | OMIM | 600014.0014 | Disease | p.GLY1132ASP | NICOLAIDES-BARAITSER SYNDROME | | OMIM | 600014.0002 | Disease | p.GLY1202CYS | NICOLAIDES-BARAITSER SYNDROME | | OMIM | 600014.0006 | Disease | p.GLY881VAL | NICOLAIDES-BARAITSER SYNDROME | | OMIM | 600014.0011 | Disease | p.HIS939TYR | NICOLAIDES-BARAITSER SYNDROME | | OMIM | 600014.0009 | Disease | p.PRO883LEU | NICOLAIDES-BARAITSER SYNDROME |
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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48255898
probable global transcription activator SNF2L2 isoform b [Homo sapiens]
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