Extended Data Fig. 1: Ultrarare TNIP1Q333P variant absent in unaffected family members and predicted to be damaging to TNIP1 function. | Nature Immunology

Extended Data Fig. 1: Ultrarare TNIP1Q333P variant absent in unaffected family members and predicted to be damaging to TNIP1 function.

From: A TNIP1-driven systemic autoimmune disorder with elevated IgG4

Extended Data Fig. 1

a, GnomAD global frequencies of TNIP1 variant in different populations and sexes. b, Variant pathogenicity prediction outputs for TNIP1Q333P. c, Integrative Genomics Viewer (IGV) image of the TNIP1Q333P missense variant. d, Sequencing chromatogram validating Tnip1Q346P mutation in the CRISPR/Cas9 generated vikala founder mouse.

Back to article page