Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.D83N
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RHO

NM_000539.3:p.D83N

Associated Papers

Widespread and Convergent Evolution of Cone Monochromacy in Galeomorph Sharks.

Hart NS et al.

Molecular Biology and Evolution, 2025

Accurate Detection of Convergent Mutations in Large Protein Alignments With ConDor.

Morel M et al.

Genome Biology and Evolution, 2024

Severe retinal degeneration in a patient with Canavan disease.

Benson MD et al.

Ophthalmic Genetics, 2021

A comparative study of rhodopsin function in the great bowerbird (Ptilonorhynchus nuchalis): Spectral tuning and light-activated kinetics.

van Hazel I et al.

Protein Science : a Publication of the Protein Society, 2016

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

Rhodopsin gene polymorphism associated with divergent light environments in Atlantic cod.

Pampoulie C et al.

Behavior Genetics, 2015

Opsin gene duplication and divergence in ray-finned fish.

Rennison DJ et al.

Molecular Phylogenetics and Evolution, 2012

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

The role of Glu181 in the photoactivation of rhodopsin.

Lüdeke S et al.

Journal of Molecular Biology, 2005

Development of stable cell lines expressing high levels of point mutants of human opsin for biochemical and biophysical studies.

Sullivan JM et al.

Methods in Enzymology, 2000

Electrical approach to study rhodopsin activation in single cells with early receptor current assay.

Sullivan JM et al.

Methods in Enzymology, 2000

Mechanism of spectral tuning in the dolphin visual pigments.

Fasick JI et al.

Biochemistry, 1998

Rhodopsin activation: effects on the metarhodopsin I-metarhodopsin II equilibrium of neutralization or introduction of charged amino acids within putative transmembrane segments.

Weitz CJ et al.

Biochemistry, 1993

Constitutive activation of opsin: influence of charge at position 134 and size at position 296.

Cohen GB et al.

Biochemistry, 1993

Mapping of the amino acids in membrane-embedded helices that interact with the retinal chromophore in bovine rhodopsin.

Nakayama TA et al.

The Journal of Biological Chemistry, 1991

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

Nathans J

Biochemistry, 1990

Effect of carboxyl mutations on functional properties of bovine rhodopsin.

DeCaluwé GL et al.

Biophysical Chemistry, 0

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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."