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Fig. 3 | BMC Genomics

Fig. 3

From: Functional relevance of naturally occurring mutations in adhesion G protein-coupled receptor ADGRD1 (GPR133)

Fig. 3

nsSNPs leading to length variations do not elicit intracellular signal transduction. a Schematic structure of the cloned constructs for the length variation Q600stop and the frameshift C632fs are shown in the middle. The signal peptide (dark grey triangle) is followed by an HA-tag (light grey box) and the functional domains of the NTF: a PTX (grey box labeled ‘PTX’) and GAIN domain (rectangle including GPS as circle). Transmembrane units are indicated as grey boxes downstream the GPS circle. The C terminus features a hexagonal FLAG-tag. The star indicates the newly cloned 3′UTR region. b Two days after transfection CRE-SeAP assay, cell surface and whole cell ELISA were performed. Graphs show the percentage of wildtype (wt) after normalization to mock control of functional relevant nsSNPs in CRE-SeAP activity (EV: 568,311 ± 59,100 counts; wt: 786,125 ± 85,787 counts; n = 4), cell surface expression (EV: 0.02 ± 0.03 OD492 nm; wt: 0.70 ± 0.11 OD492nm; n = 9) and whole cell expression (EV: 0.08 ± 0.07 OD492 nm; wt: 0.97 ± 0.16 OD492 nm; n = 7). c Stimulation with p13 could not activate Q600stop. Data are shown as x-fold over mock control (EV: CREB-Luciferase: 1320.6 ± 628.1 counts; n = 4). a-c Data are given as means ± SD. To compare differences of receptor mutants to wildtype basal activity or expression levels an unpaired two-tailed t-test was performed, for receptor activation after p13 stimulation two-way ANOVA with Bonferroni as post-test was used, ** p ≤ 0.01 *** p ≤ 0.001; n.d., not detectable

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