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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_005140 | Disease | p.ARG151GLN | Retinitis pigmentosa autosomal recessive (ARRP) | | Swiss-Prot | VAR_015172 | Disease | p.ARG234TRP | Bothnia retinal dystrophy (BRD) | | Swiss-Prot | VAR_037317 | Polymorphism | p.MET226LYS | N/A | | OMIM | 180090.0001 | Disease | p.ARG150GLN | FUNDUS ALBIPUNCTATUS||RETINITIS PUNCTATA ALBESCENS, INCLUDED | | OMIM | 180090.0004 | Disease | p.ARG234TRP | BOTHNIA RETINAL DYSTROPHY||RETINITIS PUNCTATA ALBESCENS, INCLUDED | | OMIM | 180090.0005 | Disease | p.MET225LYS | RETINITIS PUNCTATA ALBESCENS |
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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117391
RLBP1_HUMAN RecName: Full=Retinaldehyde-binding protein 1; AltName: Full=Cellular retinaldehyde-binding protein
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