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Known Diseases associated with this Protein: |  LEBER CONGENITAL AMAUROSIS 14 (LCA14)
| RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED
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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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Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs75368761 | Polymorphism | p.PHE25TYR | N/A | | Swiss-Prot | VAR_063559 | Polymorphism | p.PRO173LEU | N/A | | Swiss-Prot | VAR_018386 | Disease | p.SER175ARG | Leber congenital amaurosis 14 (LCA14) | | OMIM | 604863.0001 | Disease | p.SER175ARG | RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED |
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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46576867
LRAT_HUMAN RecName: Full=Lecithin retinol acyltransferase; AltName: Full=Phosphatidylcholine--retinol O-acyltransferase
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