Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.E181Q
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RHO

NM_000539.3:p.E181Q

Associated Papers

Structure of human green cone opsin yields insights into mechanisms underlying the rapid decay of its active, signaling state.

Yao W et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

41329744 (PubMed )
Supplement: pnas.2516318122.sapp.pdf

Linking Protein Stability to Pathogenicity: Predicting Clinical Significance of Single-Missense Mutations in Ocular Proteins Using Machine Learning.

Majid I et al.

International Journal of Molecular Sciences, 2024

RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape.

Trastulli G et al.

Genes, 2024

39336749 (PubMed )
Supplement: genes-15-01158-s001.zip › genes-3162794-supplementary.xlsx › Table_S1

CRISPR DNA Base Editing Strategies for Treating Retinitis Pigmentosa Caused by Mutations in Rhodopsin.

Kaukonen M et al.

Genes, 2022

35893064 (PubMed )
Supplement: genes-13-01327-s001.zip › Table_S3_gnomAD.xlsx › gnomAD_2022-04-19

Analysis of Conserved Glutamate and Aspartate Residues in Drosophila Rhodopsin 1 and Their Influence on Spectral Tuning.

Zheng L et al.

The Journal of Biological Chemistry, 2015

Understanding rhodopsin mutations linked to the retinitis pigmentosa disease: a QM/MM and DFT/MRCI study.

Hernández-Rodríguez EW et al.

The Journal of Physical Chemistry. B, 2012

Molecular mechanism of long-range synergetic color tuning between multiple amino acid residues in conger rhodopsin.

Watanabe HC et al.

Biophysics, 2010

Computational Screening of Rhodopsin Mutations Associated with Retinitis Pigmentosa.

Felline A et al.

Journal of Chemical Theory and Computation, 2009

Structural impact of the E113Q counterion mutation on the activation and deactivation pathways of the G protein-coupled receptor rhodopsin.

Standfuss J et al.

Journal of Molecular Biology, 2008

The role of Glu181 in the photoactivation of rhodopsin.

Lüdeke S et al.

Journal of Molecular Biology, 2005

Role of the retinal hydrogen bond network in rhodopsin Schiff base stability and hydrolysis.

Janz JM et al.

The Journal of Biological Chemistry, 2004

Determinants of visual pigment absorbance: identification of the retinylidene Schiff's base counterion in bovine rhodopsin.

Nathans J

Biochemistry, 1990

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."