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. 2022 Aug 25;23(17):9621. doi: 10.3390/ijms23179621

Figure 2.

Figure 2

(a) Schematic representation of the RBM8A gene and the localization of TAR syndrome associated variants classified as pathogenic/likely pathogenic, as documented in the literature. The novel variant identified in this work is highlighted in a box. The nomenclature is used according to HGVS, using Reference Sequence NM_005105.4, LRG_574t1. When available, frequencies in the gnomAD database and dbSNP identification references are shown. Blue boxes—exons; grey boxes—UTRs; RRM—RNA recognition motif; VUS—variant of uncertain significance. (b) Summary of documented TAR syndrome genotypes and known/predicted effects of the variants. NMD—nonsense-mediated mRNA decay. Source [2,3,6,8,12,15,16,17,18,19,20,21,22,23,24,25,26].