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Known Diseases associated with this Protein: |  ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5
| ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5 (ARCI5)
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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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| p450 | pfam00067 | 1.7e-142 | 60 | 524 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_037442 | Disease | p.ARG243HIS | Ichthyosis, congenital, autosomal recessive 5 (ARCI5) | | Swiss-Prot | VAR_037443 | Disease | p.ARG372TRP | Ichthyosis, congenital, autosomal recessive 5 (ARCI5) | | Swiss-Prot | VAR_037445 | Disease | p.HIS436ASP | Ichthyosis, congenital, autosomal recessive 5 (ARCI5) | | Swiss-Prot | VAR_037444 | Disease | p.HIS435TYR | Ichthyosis, congenital, autosomal recessive 5 (ARCI5) | | dbSNP | rs7256787 | Polymorphism | p.LYS505GLN | N/A | | Swiss-Prot | VAR_037441 | Disease | p.PHE59LEU | Ichthyosis, congenital, autosomal recessive 5 (ARCI5) | | dbSNP | rs16980531 | Polymorphism | p.SER178CYS | N/A | | OMIM | 611495.0003 | Disease | p.ARG243HIS | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5 | | OMIM | 611495.0002 | Disease | p.HIS436ASP | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5 | | OMIM | 611495.0001 | Disease | p.HIS435TYR | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5 | | OMIM | 611495.0005 | Disease | p.TRP521TER | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5 |
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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74748981
CP4FN_HUMAN RecName: Full=Cytochrome P450 4F22
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