Figure 3
Functional implications of the ANKLE1 variant rs2363956. (A) rs2363956 is a coding region variant of the ANKLE1 gene, located at 19p13.11. This missense variant encodes a leucine to tryptophan change at amino acid position 184 (ANKLE1 protein domain model shown from cBioPortal61). (B) Genotype frequency pie charts of the rs2363956 allele among SIR African Americans (AA), SIR Ghanaian (G) and SIR European American (EA) individuals. Non-TNBC cases are shown in the top row, and TNBC cases are in the bottom row. Those individuals homozygous for the protective/minor G allele are shown in light blue, heterozygotes are dark blue, and individuals homozygous for the major T allele are in light green. (C) Illustration of the predicted 3D ANKLE1 protein structure from I-TASSER using Chimera with leucine at position 184 (representing the reference allele), and (D) with tryptophan at position 184 (representing the missense rs2363956 G allele). For both C and D, confidence score (C-score) > − 1.5 indicates a model of correct global topology. The 3D structure follows rainbow coloring, where blue coloring represents the N-terminus, and red indicates the C-terminus. Kaplan Meier curves comparing ANKLE1 gene expression and overall survival outcomes between low/medium and high ANKLE1 expressing (E) EA and (F) AA, where high expression is shown in blue, and low/medium expression is shown in red. (G) KM curves comparing of overall survival between high expressing AA (blue) and high expressing EA (red). For (E–G), N values are reported for each comparison group, and the p value is reported on the plot.
