Fig. 2
From: Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus
SNVs in BANK1 and BLK associate with SLE. a Pedigrees of multiple families with low-frequency, rare, and novel SNV (single-nucleotide variant) in BLK associate with autoimmunity. Individuals with green shading show symptoms of autoimmunity. (ITP idiopathic thrombocytopenic purpura, ALP autoimmune lymphoproliferative syndrome, RA rheumatoid arthritis, SS Sjogren’s Syndrome, PA psoriatic arthritis, SLE = systemic lupus erythematosus, ANA antinuclear antibodies, SA seronegative arthropathy). The amino acid position and change within the BLK protein, from the more common or “wild type”, is shown below each individual (+ = “wild type”). Individual families are indicated by (a–i). b Frequencies of synonymous and nonsynonymous SNVs in BLK in original (SLE1) and replication SLE cohorts (SLE2), common variable immunodeficiency (CVID), and healthy control cohorts. SNV single-nucleotide variant, MAF minor allele frequency. c The pedigrees of Family A and B identify combined variants in BLK and BANK1 in SLE patients. d Pedigrees of families (a, j–m) with autoimmunity and the BANK1W40C variant. MCT mixed connective tissue disease, APS antiphospholipid syndrome). e Frequencies of synonymous and nonsynonymous SNV in BANK1 in SLE1, SLE2, CVID, and healthy control cohorts
