Fig. 1

nsSNPs in ADGRD1 influence cell surface expression and cAMP responsive element activity. a Schematic amino acid structure of ADGRD1 which consists of 874 amino acids. The signal peptide (SP) is followed by a pentraxin domain (PTX), the GPCR autoproteolysis inducing (GAIN) domain (including the two subdomains) harboring a GPCR proteolysis site (GPS), the 7TM region (I-VII) with 3 intra and 3 extracellular loops and a C-terminal tail (CT). The receptor is divided into two fragments: an N-terminal fragment (NTF) and a C-terminal fragment (CTF) after autoproteolytic cleavage at the GPS. Each vertical line indicates a position influenced by amino acid changing single nucleotide variants (data collection: 21-04-2015). b Each dot represents the mean of one inspected nsSNPs in ADGRD1 (for details see Additional file 1). The dotted lines indicate the one- and twofold standard deviation (SD) from wt in CRE-SeAP activity. Data are given as % of wt activity and cell surface expression as mean ± SD. Empty vector (EV) served as negative control (basal activity: EV: 568,311 ± 59,100 counts; wt: 786,125 ± 85,787 counts; n = 4; basal expression: EV: 0.01 ± 0.02 OD_{492 nm}; wt: 0.70 ± 0.11 OD_{492 nm}; n = 12)