Ankyrin repeats in context with human population variation
Fig 9
(A) Relative Missense Enrichment Score (MES) against normalised Shenkin divergence score for the 33 positions of the domain. Blue diamonds: CMD positions (6, 9, 13, 21, 22); Green squares: CME positions (4, 5), UMDs are coloured in red hexagons (1, 3, 8, 33) and UMEs in orange triangles (11, 12, 15, 23, 24, 30, 31). Error bars represent 95% CI of the MES, i.e., ln (OR). Positions coloured in grey circles are classed as “None”, for they do not meet our divergence score thresholds; (B) D34 region of ANK1 ARD, PDB accession: 1N11 [53] This structure shows 12 out of the 23 ARs found on this ARD. Residues are coloured according to the missense enrichment score of the alignment column they align to in the MSA. The colour scale goes from blue (missense-depleted) to red (missense-enriched) going through white (neutral). From left to right, the full domain, then concave, convex and basal surface are coloured. On each of the last three representations, only one surface is coloured. Residues that are not constitutive of the displayed surface are coloured in grey. Overall, the concave surface is coloured in a light blue colour (except positions 11 and 12), indicating its depletion in missense variants, relative to the other positions within the ANK. Figure obtained with UCSF Chimera [7].