Fig. 2.

Description, origin, location, and influence on protein structure of the SLC12A6 NC_006612.3(XM_014109414.2):c.178_181delinsCATCTCACTCAT(p.(Met60Hisfs*14)) variant. a shows a schematic representation of the genomic structure of the first exons of SLC12A6 (exons are numbered like in Garneau et al. [14]). White boxes represent exonic untranslated regions, black boxes represent exonic coding regions, and the white vertical bar represents the position of the SLC12A6 variant. b shows the chromatograms of the wild type (Wt) and the variant type (Vt), and the proposed origin of the INDEL by a template-switch process (1–3–4–2) with inverted repeat (arrows) and inverted spacer (dotted line) as described by Löytynoja and Goldman [36]. c shows the predicted structure of the canonical SLC12A6 protein (Wt) and the truncated variant translated from the INDEL-containing transcript (Vt), drawn with Protter [37]