2016
DOI: 10.1002/humu.23152
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SLC4A11 Three-Dimensional Homology Model Rationalizes Corneal Dystrophy-Causing Mutations

Abstract: We studied the structural effects of point mutations of a membrane protein that cause genetic disease. SLC4A11 is a membrane transport protein (OH /H /NH /H O) of basolateral corneal endothelium, whose mutations cause some cases of congenital hereditary endothelial dystrophy and Fuchs endothelial corneal dystrophy. We created a three-dimensional homology model of SLC4A11 membrane domain, using Band 3 (SLC4A1) crystal structure as template. The homology model was assessed in silico and by analysis of mutants de… Show more

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Cited by 18 publications
(16 citation statements)
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“…What patterns emerge when examining the molecular phenotypes of 54 corneal dystrophy‐causing SLC4A11 point mutants (Figures and )? The topology model (Figure ) illustrates the folding of SLC4A11 on the basis of structural homology with the SLC4 protein family member AE1 (SLC4A1, Band 3) (Arakawa et al., ; Badior et al., ). Strikingly, intracellular‐retained mutants are enriched in the plane of the lipid bilayer (20 out of 27), whereas outside the bilayer only six out of 22 cause ER retention (Figure A).…”
Section: Discussionmentioning
confidence: 99%
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“…What patterns emerge when examining the molecular phenotypes of 54 corneal dystrophy‐causing SLC4A11 point mutants (Figures and )? The topology model (Figure ) illustrates the folding of SLC4A11 on the basis of structural homology with the SLC4 protein family member AE1 (SLC4A1, Band 3) (Arakawa et al., ; Badior et al., ). Strikingly, intracellular‐retained mutants are enriched in the plane of the lipid bilayer (20 out of 27), whereas outside the bilayer only six out of 22 cause ER retention (Figure A).…”
Section: Discussionmentioning
confidence: 99%
“…Molecular phenotype of SLC4A11 mutants mapped onto topology model. Topology model of SLC4A11 based on SLC4A11 homology model (Badior et al., ). Boxes represent transmembrane segment and each circle represent one SLC4A11 amino acid whose single letter code is indicated.…”
Section: Discussionmentioning
confidence: 99%
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