|  | 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_069468 | Disease | p.GLU493VAL | Cowchock syndrome (COWCK) | | Swiss-Prot | VAR_067334 | Disease | p.GLY308GLU | Combined oxidative phosphorylation deficiency 6 (COXPD6) | | OMIM | 300169.0002 | Disease | p.GLU493VAL | COWCHOCK 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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13431764
AIFM1_HUMAN RecName: Full=Apoptosis-inducing factor 1, mitochondrial; AltName: Full=Programmed cell death protein 8; Flags: Precursor
3
0
1
0
2
