Figure 3
Protein position of SORL1 variants with MAF <1 × 10−4 in ExAC database. One hundred and twenty-one coding variants with ExAC-MAF <1 × 10−4 were detected the combined analysis of 5101 subjects (1895 cases and 3206 controls). Each symbol represents one case carrier (red) or control (green) carrier. Protein domains are depicted on the CADD=20 level, variants with CADD scores between 20 and 30 are considered ‘moderately damaging’ and variants with CADD scores >30 were considered ‘strongly damaging’. Markers outlined in black represent variants that were detected in multiple cases or in multiple controls.
