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. Author manuscript; available in PMC: 2020 May 1.
Published in final edited form as: J Allergy Clin Immunol. 2019 Jan 18;143(5):1939–1943.e8. doi: 10.1016/j.jaci.2018.12.1012

FIG E2. Whole Exome Sequencing (WES) and PSMG2 Multispecies Alignment.

FIG E2

(A) Visualization of the binary alignment map (bam) using Integrative Genomics Viewer (IGV) revealed that the two variants are in trans configuration. The sequencing reads containing the 2 base-pair deletion lack the missense mutation (red dashed box), whereas the sequencing reads containing the missense mutation lack the 2 base-pair deletion (blue dashed box), thus suggesting that each variant was inherited from a different parent which was confirmed by Sanger sequencing. (B) Multispecies alignment of the PSMG2 protein region affected by the compound heterozygous variants confirms conservation across species for both variants.