The lollipop diagram shows the distribution of the TMEM63B variants observed in our cohort on the linear protein map and relative to the TMEM63B exons (top, based on NM_018426.3 reference sequence). The variants are represented as green (missense substitutions) or brown (in-frame deletion) dots and all map in the transmembrane helices TM1, TM4-7, and TM9-10 (green boxes). The p.Val44Met (V44M) and the p.Val463I (V463I) are recurrent in seven and two individuals, respectively, as illustrated by the number of green dots. At the bottom of the diagram, the dark blue dots represent the residues affected by missense variants in TMEM63A (five variants in six unrelated individuals: p.Gly168Glu [G168E], p.Ile462Asn [I462N], p.Gly553Val [G553V], p.Tyr559His [Y559H], p.Gly567Ser [G567S]).6,7,8
