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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 | Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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| WNT1 | smart00097 | 5.5e-215 | 40 | 349 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_030673 | Disease | p.ALA109THR | Fuhrmann syndrome (FUHRS) | | Swiss-Prot | VAR_030674 | Disease | p.ARG292CYS | Limb pelvis hypoplasia aplasia syndrome (LPHAS) | | Swiss-Prot | VAR_064480 | Disease | p.ARG222TRP | Limb pelvis hypoplasia aplasia syndrome (LPHAS) | | Swiss-Prot | VAR_065765 | Disease | p.GLU72LYS | Limb pelvis hypoplasia aplasia syndrome (LPHAS) | | OMIM | 601570.0002 | Disease | p.ALA109THR | FUHRMANN SYNDROME | | OMIM | 601570.0001 | Disease | p.ARG292CYS | ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY | | OMIM | 601570.0004 | Disease | p.ARG222TRP | ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY | | OMIM | 601570.0005 | Disease | p.GLU72LYS | ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY | | OMIM | 601570.0003 | Disease | p.GLY204SER | ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY |
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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145559540
WNT7A_HUMAN RecName: Full=Protein Wnt-7a; Flags: Precursor
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