Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.E134Q
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RHO

NM_000539.3:p.E134Q

Associated Papers

Constitutively active rhodopsin and retinal disease.

Park PS

Advances in Pharmacology (san Diego, Calif.), 2014

Alterations in the photoactivation pathway of rhodopsin mutants associated with retinitis pigmentosa.

Bosch-Presegué L et al.

The Febs Journal, 2011

Lipid protein interactions couple protonation to conformation in a conserved cytosolic domain of G protein-coupled receptors.

Madathil S et al.

The Journal of Biological Chemistry, 2009

Crystal structure of opsin in its G-protein-interacting conformation.

Scheerer P et al.

Nature, 2008

Molecular dynamics simulations of rhodopsin point mutants at the cytoplasmic side of helices 3 and 6.

Cordomí A et al.

Journal of Biomolecular Structure & Dynamics, 2008

Rhodopsin and 9-demethyl-retinal analog: effect of a partial agonist on displacement of transmembrane helix 6 in class A G protein-coupled receptors.

Knierim B et al.

The Journal of Biological Chemistry, 2008

G protein-coupled receptors disrupted in human genetic disease.

Thompson MD et al.

Methods in Molecular Biology (clifton, N.j.), 2008

Engineering a "steric doorstop" in rhodopsin: converting an inverse agonist to an agonist.

McKee TD et al.

Biochemistry, 2007

Critical role of electrostatic interactions of amino acids at the cytoplasmic region of helices 3 and 6 in rhodopsin conformational properties and activation.

Ramon E et al.

The Journal of Biological Chemistry, 2007

Vertebrate opsins belonging to different classes vary in constitutively active properties resulting from salt-bridge mutations.

Nickle B et al.

Biochemistry, 2006

Partial agonism in a G Protein-coupled receptor: role of the retinal ring structure in rhodopsin activation.

Bartl FJ et al.

The Journal of Biological Chemistry, 2005

The spectrum of human rhodopsin disease mutations through the lens of interspecific variation.

Briscoe AD et al.

Gene, 2004

Role of the conserved NPxxY(x)5,6F motif in the rhodopsin ground state and during activation.

Fritze O et al.

Proceedings of the National Academy of Sciences of the United States of America, 2003

Transducin-dependent protonation of glutamic acid 134 in rhodopsin.

Fahmy K et al.

Biochemistry, 2000

Theoretical study on mutation-induced activation of the luteinizing hormone receptor.

Fanelli F

Journal of Molecular Biology, 2000

Mutation of the fourth cytoplasmic loop of rhodopsin affects binding of transducin and peptides derived from the carboxyl-terminal sequences of transducin alpha and gamma subunits.

Ernst OP et al.

The Journal of Biological Chemistry, 2000

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

Constitutive activation of opsin by mutation of methionine 257 on transmembrane helix 6.

Han M et al.

Biochemistry, 1998

Modulation of GDP release from transducin by the conserved Glu134-Arg135 sequence in rhodopsin.

Acharya S et al.

The Journal of Biological Chemistry, 1996

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

Regulation of the rhodopsin-transducin interaction by a highly conserved carboxylic acid group.

Fahmy K 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

Structure and function in rhodopsin. Studies of the interaction between the rhodopsin cytoplasmic domain and transducin.

Franke RR et al.

The Journal of Biological Chemistry, 1992

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."