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. 2014 Feb 13;10(2):e1004068. doi: 10.1371/journal.pgen.1004068

Figure 7. AA variation of human collagen XVII in a non-EB diagnosed human population in comparison with known JEB causing variants.

Figure 7

A, Whole protein view of minority consensus AA allelic variant frequencies based on Exome Variant Server database and mapped to domains of human collagen XVII [30]. *, missense; ∧, nonsense JEB-causing mutations from HGMD. Blue, NC Domains; Yellow, COL domains based on Giudice et al. [30]. B, Predicted AA variation encoded by exon 52 of human COL17A1. AA sequence with minority allelic variants from EVS and 1000 Genomes indicated above in bold. +, known JEB causing missense variant, R1303Q [13], [41], [42]. *, positions of variants (mouse 1275, 1277 & 1292) aligned to human collagen XVII. Waved line indicates the region affected by the 4003delTC/4080insGG revertant mosaic double mutation causing the partial replacement of NC4 and partial loss of the COL3 domains [44].