| Literature DB >> 17014888 |
Alessandro Iannaccone1, David Man, Naushin Waseem, Barbara J Jennings, Madhavi Ganapathiraju, Kevin Gallaher, Elisheva Reese, Shomi S Bhattacharya, Judith Klein-Seetharaman.
Abstract
Similar retinitis pigmentosa (RP) phenotypes can result from mutations affecting different rhodopsin regions, and distinct amino acid substitutions can cause different RP severity and progression rates. Specifically, both the R135L and R135W mutations (cytoplasmic end of H3) result in diffuse, severe disease (class A), but R135W causes more severe and more rapidly progressive RP than R135L. The P180A and G188R mutations (second intradiscal loop) exhibit a mild phenotype with regional variability (class B1) and diffuse disease of moderate severity (class B2), respectively. Computational and in vitro studies of these mutants provide molecular insights into this phenotypic variability.Entities:
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Year: 2006 PMID： 17014888 DOI： 10.1016/j.visres.2006.08.018
Source DB: PubMed Journal: Vision Res ISSN： 0042-6989 Impact factor: 1.886