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. 2022 Feb 7;12(2):265. doi: 10.3390/biom12020265

Figure 1.

Figure 1

ABCC8 two-dimensional protein schematic. Variants identified in adult-onset PAH cases are shown above the protein schematic; variants identified in children are shown below. Variant type is color-coded. The number of PAH carriers identified with a particular variant is shown along the y-axis. Note that splice variants are not included and variant density may impede visualization of closely-located variants. Conserved protein domains are indicated by colored rectangles. ABC_membrane, ABC transporter transmembrane region; ABC_tran, ABC transporter. Map generated using MutationMapper at cBioPortal.org, accessed on 2 January 2022.