Figure 4.

Localization and predicted consequence of the RASGRP2 reported variants in humans. The variant reported by Canault et al. [58] is shown in black. The variants identified by Lozano et al. are highlighted in turquoise, by Kato et al. [96] in light purple, by Sevivas et al. [60] in brown, by Westbury et al. [91] in light green, by Desai et al. [84] and Westbury et al. in orange, by Bermejo et al. [89] and Wesbury et al. in light blue, Lyu et al. [92] in dark green, Yun et al. [90] in purple, Lunghi et al. [93] in dark blue, Manukjan et al. [94] in pink and the newly identified variant id indicated in red. Variants in brackets are prediction of intronic modifications affecting splice regions. Sequences of the variants are annotated according to the consensus nomenclature to describe variant effect at the protein level (fs = frameshift, del = deletion, * = change to a stop codon, variant in brackets represent intronic modification effects (splice variants))