Predicted deleteriousness scores are shown for 71 rare functional variants (non-synonymous, nonsense and splice-sites).

<p>From the top, the first plot depicts the PolyPhen-2 score for each variant, the second depicts the GERP_RS score, and the third depicts variant counts for cases (up) and controls (down). Green tick marks indicate a variant contained in an exon, and red ticks indicate that a variant is selected by the backward elimination procedure. LoF variants are marked by a black asterisk; the homozygous probably damaging variant is marked by a red asterisk. The location of five protein domains (ChoreinN, TM2, TM4, DUF1162, Golgi targeting element, and ATG C) are depicted by boxes at the top of the plot (see <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1004729#pgen.1004729.s010" target="_blank">Figure S10</a> for a complete view of VPS13B protein domains). Variants are plotted equidistantly on the x-axis.