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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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| Swiss-Prot | VAR_015175 | Disease | p.ARG396SER | Ichthyosis, congenital, autosomal recessive 3 (ARCI3) | | Swiss-Prot | VAR_069562 | Disease | p.GLY281VAL | Ichthyosis, congenital, autosomal recessive 3 (ARCI3) | | dbSNP | rs3027205 | Polymorphism | p.ILE515VAL | N/A | | Swiss-Prot | VAR_069561 | Disease | p.LEU237MET | Ichthyosis, congenital, autosomal recessive 3 (ARCI3) | | Swiss-Prot | VAR_069564 | Disease | p.LEU427PRO | Ichthyosis, congenital, autosomal recessive 3 (ARCI3) | | Swiss-Prot | VAR_069565 | Disease | p.PRO630LEU | Ichthyosis, congenital, autosomal recessive 3 (ARCI3) | | Swiss-Prot | VAR_015176 | Disease | p.VAL500PHE | Ichthyosis, congenital, autosomal recessive 3 (ARCI3) | | OMIM | 607206.0007 | Disease | p.ARG13HIS | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 | | OMIM | 607206.0003 | Disease | p.ARG264SER | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 | | OMIM | 607206.0002 | Disease | p.ARG102TER | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 | | OMIM | 607206.0005 | Disease | p.GLY149VAL | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 | | OMIM | 607206.0004 | Disease | p.LEU105MET | RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE | | OMIM | 607206.0008 | Disease | p.LEU295PRO | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 | | OMIM | 607206.0006 | Disease | p.PRO498LEU | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 | | OMIM | 607206.0001 | Disease | p.VAL368PHE | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3 |
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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27923803
LOXE3_HUMAN RecName: Full=Hydroperoxide isomerase ALOXE3; AltName: Full=Epidermis-type lipoxygenase 3; Short=Epidermal LOX-3; Short=e-LOX-3; Short=eLOX-3
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