Additional file 3 of Impaired SorLA maturation and trafficking as a new mechanism for SORL1 missense variants in Alzheimer disease

Additional file 3: Table S1: Summary of analyses performed in HEK293 cells expressing wild-type (WT) or missense variants of SorLA, or in CRISPR/Cas9-edited hiPSC. Nucleotide positions are relative to canonical transcript NM_003105.5. The nucleotide change on cDNA, the corresponding amino acid change on the protein, and the location along the protein (Functional domain) are indicated. The Mis3, Mis2, and Mis0-1 missense variants examined in this study are shown in red, orange and black, respectively. For each variant, the number of carriers among our cohort (or among cohorts described in the litterature when applicable) and the corresponding frequency are indicated, as well as the allele count and the corresponding frequency in the gnomAD v2.1 database (only including individuals of European ancestry, and classified as “non-neuro”). Regarding the functional studies inHEK293 cells and iPSCs, a (Y) indicates an impact of the variants on SorLA protein maturation, transport or function and a (N) indicates no change from the wild-type form of the protein.