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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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 Domains found on the Protein Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| OMIM | 125647.0006 | Disease | p.ARG1767CYS | SKIN FRAGILITY-WOOLLY HAIR SYNDROME | | OMIM | 125647.0013 | Disease | p.ARG1767HIS | SKIN FRAGILITY-WOOLLY HAIR SYNDROME | | OMIM | 125647.0012 | Disease | p.ARG2235HIS | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 | | OMIM | 125647.0008 | Disease | p.ARG1335TER | EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC | | OMIM | 125647.0004 | Disease | p.ASN287LYS | SKIN FRAGILITY-WOOLLY HAIR SYNDROME | | OMIM | 125647.0005 | Disease | p.CYS809TER | SKIN FRAGILITY-WOOLLY HAIR SYNDROME | | OMIM | 125647.0001 | Disease | p.GLN331TER | KERATOSIS PALMOPLANTARIS STRIATA II | | OMIM | 125647.0007 | Disease | p.GLN664TER | SKIN FRAGILITY-WOOLLY HAIR SYNDROME | | OMIM | 125647.0003 | Disease | p.SER299ARG | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 | | OMIM | 125647.0011 | Disease | p.VAL30MET | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8 |
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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58530842
desmoplakin isoform II [Homo sapiens]
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