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Known Diseases associated with this Protein: |  ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A
| ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B
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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 Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs726070 | Polymorphism | p.ASP2047ASN | N/A | | dbSNP | rs16853149 | Polymorphism | p.GLU232GLY | N/A | | dbSNP | rs13414448 | Polymorphism | p.GLY933ASP | N/A | | OMIM | 607800.0004 | Disease | p.ARG1196HIS | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A | | OMIM | 607800.0009 | Disease | p.ARG1885TER | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B | | OMIM | 607800.0002 | Disease | p.ASN1062SER | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A | | OMIM | 607800.0008 | Disease | p.ASP2045ASN | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B | | OMIM | 607800.0005 | Disease | p.GLU1221LYS | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A | | OMIM | 607800.0010 | Disease | p.GLY861ARG | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B | | OMIM | 607800.0001 | Disease | p.GLY1063GLU | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A | | OMIM | 607800.0003 | Disease | p.GLY1333SER | ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A |
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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27881501
ATP-binding cassette sub-family A member 12 isoform b [Homo sapiens]
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